Genetic Connection. The. Understanding the Progression of Gaucher Disease Type 1. In Your Corner: Patient Education Liaisons and Genetic Counselors

Transcription

1 Winter 2011/2012 Volume 17, Number 3 A Newsletter for the Gaucher Community From the Genzyme Corporation The Genetic Connection Inheriting Gaucher Disease Type 1 Understanding the Progression of Gaucher Disease Type 1 In Your Corner: Patient Education Liaisons and Genetic Counselors Seven Tests to Determine the Best Treatment for Gaucher Disease CZ-US-P

2 We d Love to Hear From You Let us know how we can make Horizons even better. Please send us your feedback by filling out the enclosed business reply card or ing our publisher (petercis1@yahoo.com). Please see accompanying full Prescribing Information.

3 Contents The Genetic Connection... 4 In Your Corner Patient Education Liaisons and Genetic Counselors... 7 Seven Tests to Determine the Best Treatment for Gaucher Disease Talking to Siblings of Children With Gaucher Disease Type Understanding the Progression of Gaucher Disease Type Foreword When parents face the diagnosis of Gaucher disease type 1 in one of their children, naturally their concerns become focused on the newly diagnosed child. However, it s just as important to discuss a child s Gaucher disease type 1 with his or her siblings, whether the diagnosis comes as a surprise or whether it is already established by the time a sibling is born. Brothers and sisters play a key role in understanding what it means to live with Gaucher disease type 1 in the family. That s why this issue contains an article devoted to Talking to Siblings of Children With Gaucher Disease Type 1. After all, Gaucher is a family disease, inherited from parents or grandparents. Learn more about the Genetic Connection of Gaucher disease type 1 on page 4. This article explains how the genetic mutation for Gaucher disease type 1 may be passed from generation to generation, and how a Genetic Counselor or a Patient Education Liaison may be able to help couples who are carriers or who have Gaucher disease type 1, to understand the reproductive risks. A Patient Education Liaison, not only helps educate couples and families so they know who is at risk and to understand who could benefit from testing, but he or she is committed to helping the entire family deal with Gaucher disease type 1. This issue features the article, In Your Corner: Patient Education Liaisons and Genetic Counselors. These Counselors are often the first people to explain what a Gaucher disease type 1 diagnosis can mean, in very real terms. They are the initial educators, helping patients with Gaucher disease type 1 to understand how the disease progresses and what tests may be involved. Articles in this issue s Horizons will also help readers to understand the progression of Gaucher disease type 1; and to learn about the many tests that assess the status of the disease, evaluate the effectiveness of an existing treatment plan, or determine the important next steps in therapy. An educated patient helps to shape his or her own horizon. As with every issue of Horizons, we would love to hear your comments and feedback, so don t hesitate to send us a note. We look forward to hearing from you. Your team at Genzyme Cerezyme (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of type 1 Gaucher disease that results in one or more of the following conditions: anemia (low red blood cell count), thrombocytopenia (low blood platelet count), bone disease, hepatomegaly or splenomegaly (enlarged liver or spleen). Important Safety Information Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic reaction (hypersensitivity). Use Cerezyme (imiglucerase for injection) carefully if you have had an allergic reaction to the product in the past. Symptoms suggestive of allergic reaction happen in 6.6% of patients, and include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Side effects related to Cerezyme administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported side effects include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Cerezyme is available by prescription only. For more information, consult your physician. Please see accompanying full Prescribing Information on pages Patients are encouraged to report negative side effects of prescription drugs to the FDA. Visit FDA.gov/medwatch, or call FDA Winter 2011/2012 / Horizons 3

4 The Genetic Connection By Margie Schultz hildren inherit much more than money from their parents. They inherit genes that determine how C they look, some personality traits, and even some diseases and conditions. Genes determine whether a person has blue eyes, black hair, or brown skin, as well as many other traits and characteristics. Each parent contributes one gene for a given trait. How those genes combine determine the child s characteristics. Just because a parent has a certain trait say blue eyes doesn t mean all the children will have blue eyes. It depends on which genes the child inherits. Genetic traits can be recessive or dominant. If a trait is recessive, dominant traits will override its contribution, so a person needs two copies of the recessive gene to have that trait. For example, as mentioned, blue eyes are a recessive trait. For a child to have blue eyes, he or she must receive two blueeye genes one from each parent. If the child receives a blueeye gene from mom and a blue-eye gene from dad, the child will have blue eyes. If the child receives a blue-eye gene from mom and a brown-eye gene from dad, the child will have brown eyes because the brown eye gene is dominant. To complicate the issue, parents do not need to show the trait themselves to pass it onto their children. They can carry the gene, but not have the trait. So, in the example above, a couple can have a blue-eyed child, even if both parents have brown eyes, as long as both parents carry the blue-eye gene and pass it to their child. Inheriting Gaucher disease type 1 In cases where diseases and conditions are genetic, gene mutations, or abnormal changes in genes, are associated with diseases, such as Gaucher disease type 1. 4 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

5 If a parent has Gaucher disease type 1 or carries a gene that causes Gaucher disease type 1, there is a chance that children or grandchildren will inherit the condition. Gaucher disease is a recessive disorder, so the gene can be masked by a dominant non-gaucher (functioning) gene that does not carry the disease. Therefore, a child must inherit two copies of the Gaucher disease type 1 gene, one from each parent, to develop Gaucher disease. People who inherit one recessive gene for Gaucher disease type 1 are carriers; they do not have the disease but can pass it on to their children. When one parent is a carrier of Gaucher disease type 1 and the other parent is not, none of the children will have Gaucher disease type 1 (see chart below). In Terms of Genetics Allele 1 of 2 copies that are in each gene. An individual has 2 alleles (copies) of each gene 1 from each parent for a specific trait, such as eye color. Beneficial Mutation Theory when a bad mutation actually gives a good benefit. Example: People with sickle cell trait, but not anemia, are more resistant to malaria, the deadly mosquito-borne illness found in Africa. Bottleneck a type of founder effect (see below) that occurs when a catastrophic event shrinks a population down to hundreds of people, reducing its genetic diversity while at the same time increasing its genetic difference from the original group. Carrier a person with a recessive gene for a disease. The person does not have the disease but can pass it down to the next generation. Dominant Gene an allele in a gene pair that masks the second allele. Founder Effect when members of a tribe or colony leave the original group to establish a smaller subgroup. The new group has a smaller gene pool. The subgroup (who all chose to leave the original group) likely have a social connection, which further limits diversity. There is a 50:50 chance, however, that each child the couple has will inherit the Gaucher gene from the carrier parent and become a carrier of the disorder. If both parents carry the mutation for Gaucher disease: There is a 25% chance of having a child with Gaucher disease. The child inherits two copies of the gene mutation, one from each parent. There is a 50% chance of having a child who becomes a carrier of the gene. The child inherits one Gaucher gene and one functioning gene. There is a 25% chance of having a child without Gaucher disease and who is not a carrier. The child inherits two functioning genes, one from each parent. The risks are always the same for each pregnancy, regardless of the outcome of previous pregnancies. There is a chance that a woman could have some children with Gaucher and some without. There is also a chance that all of her children will have the disease or that none of her children will have the disease. Genetic Drift when a gene drifts completely out of the gene pool as a result of people with that gene leaving the group. Example: There are 4 mice on an island, 2 black and 2 white. The 2 black mice are swept out to sea, which leaves just 2 white mice. Without new mice arriving, future mice will all be white. Gene Mutation a change in a normal gene. Heterozygote a person with only 1 copy of a gene mutation or allele. This person would be a carrier for the disease and could pass it on to the next generation. Homozygote a person with 2 copies of a gene mutation or allele, such as Gaucher disease. This person would have the disease. Recessive Gene an allele in a gene pair whose effect is masked by the second allele. Please see accompanying full Prescribing Information. Winter 2011/2012 / Horizons 5

6 Ashkenazi Jews and Gaucher disease type 1 People of Ashkenazi (European) Jewish ancestry are at higher risk for several genetic disorders, including Gaucher disease, Tay-Sachs disease, cystic fibrosis, and Canavan disease. About 1 in 15 Ashkenazi Jews carry the genetic mutation associated with Gaucher disease type 1. More than 80% of cases of Gaucher disease type 1 are attributed to the N370S gene mutation. Genetic testing and counseling People might consider getting a genetic test to find out their Gaucher disease status if they have close blood relatives with Gaucher disease type 1 or who carry the Gaucher gene. Families with a history of Gaucher disease should discuss the possibility of genetic testing with their physician or a genetic counselor. In addition, some people of Ashkenazi descent seek genetic testing before conceiving regardless of family history. Genetic counseling is available to couples who are found to be carriers and those who have a family history of Gaucher disease type 1. A genetic counselor can discuss the reproductive risk for Gaucher disease, the predicted severity of disease in offspring based on the parents genotypes, and the nature of the disease. Future progress It is difficult to predict the future for genetic diseases. Medical progress has allowed some people with life-threatening genetic conditions to survive and reproduce, increasing the possibility that the genetic mutations responsible for their disease will be passed on to future generations. On the other hand, screening programs in at-risk populations can contribute to a significant decline in the number of babies born with a disease, as it has with Tay-Sachs. Public awareness campaigns should emphasize education about genetic disorders and screening programs for them. Two Generations Melissa Landau Steinman was completely unaware she had Gaucher disease until she was tested 5 months into her pregnancy. That was when she found out she had the pair of genes that cause Gaucher disease type 1. Doctors tested the umbilical cord blood of her son, Charles, as soon as he was born and found that he was a carrier for the disease. Steinman was tested for symptoms of the disease before she became pregnant with her second child. At that time she learned that her liver and spleen were enlarged, and so she began enzyme-replacement therapy with Cerezyme (imiglucerase for injection). She stopped the infusions once she became pregnant. Her second son, Jamie, was born with Gaucher disease type 1, having the pair of genes like his mother. He currently shows no symptoms but is tested annually. We ve taught him from a young age that this is part of his life, that he has this part of his genes that makes him special, Steinman explained. He hasn t really had to deal with any negative consequences at all, other than getting a blood test once a year. It s been really good in that respect. Fortunately, today, with the advances in screening and new treatments, the future is brighter for those with Gaucher disease type 1, said Steinman. Fortunately, today, with the advances in screening and new treatments, the future is brighter for those with Gaucher disease type 1. -Melissa Landau Steinman 6 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

7 In Your Corner Patient Education Liaisons and Genetic Counselors By Nick Sambides Jr. and Cheryl Alkon M any illnesses carry genetic components that get passed among families, within marriages, and down through generations. Gaucher disease type 1 has so many genetic variables that Genzyme Corporation employs Certified Genetic Counselors and Patient Education Liaisons people employed to explain just what those genetic elements are and who, within the families of disease sufferers, might have to contend with them. It s a job with many challenges and satisfactions, said Lisa Sniderman King, a senior Patient Education Liaison and Certified Genetic Counselor at Genzyme. Type 1 Gaucher disease is a relentless progressive condition. Bodies change, especially as people age or grow physically or gain weight, and you really need to ensure that the dose of medicine they [patients] are getting is appropriate, Sniderman King said. According to Sniderman King, Genetic Counselors and Patient Education Liaisons don t make those types of decisions, but will encourage patients to adhere to their providers recommendations. What we do is not based on whether the patients get our treatment, said Paula Ciampa, a regional manager of Patient Education Liaisons (PELs). She oversees several geographic regions in the US. We do this because we have the knowledge and we want them to get the best care. This isn t about you have to be on Genzyme s treatment. This is about how to make the best decision about your care. Decisions, Decisions The decisions that need to be made by patients with Gaucher disease type 1 depend largely on the individual and are often more varied than the genetic components themselves, according to Debbie Sullivan, one of Genzyme s four Patient Education Liaisons and Genetic Counselors in the United States. Sullivan was recently working with the family of a 50-something patient with Gaucher disease type 1, whose daughter was about to marry. The family s questions: Did the daughter have the illness? Would she suffer the chronic fatigue her mother has to battle? Would her children inherit the disorder? Would they be carriers? Our job, Sniderman King said, is to help educate families so they know who is at risk and to understand who could benefit from testing. In the case of the woman and her engaged daughter, Sullivan said she found that the daughter did not have the illness, but was a carrier, and that the chances of her children having the disease were almost nonexistent. All in the Family The genetic permutations of the disease can be tricky, Sniderman King said. You could have patients with severe anemia and bone involvement and patients in the same family that are practically asymptomatic, Sniderman King said. I know of two siblings that have the same genetic mutations. One was diagnosed as a child because of her symptoms enlarged spleen and nosebleeds and her older sister is monitored annually because she was checked and she has remained asymptomatic. PELs are committed to helping the entire family deal with Gaucher. If a child is diagnosed early in life, for example, a PEL can help parents work with school officials so that their son or daughter won t be penalized for frequent absences that might occur due to receiving treatment. If we meet with parents and they say the school doesn t understand what is going on, why is the child missing days of school? the PEL can step in, said Kathleen Delaney, the associate director of the PEL group. Sometimes a child with Gaucher might qualify for particular accommodations that ensure his or her education won t be affected by medical care, such as assignments that can be done at home, if infusion therapy cannot be scheduled after the school day. A PEL can help navigate the school system so the family isn t doing it all alone. The Patient Education Liaisons can say to the parents, If you let me do this for you, you can go back to being a parent. The PELs also intimately know the medical setting. We have a general knowledge of the disease and know how to work through the whole system of a hospital, said Delaney, and can talk to healthcare providers. It makes a big difference to have those people on your team. The Patient Education Liaisons have a sensitivity to the people in the field, and they really get it. The PELs are four Genetic Counselors, each representing 150 to 250 active patients in their respective geographic regions, they typically meet with families individually to explain the genetic components of the illness. (They also handle three other rare, unrelated genetic conditions: Fabry disease, Pompe disease, and Mucopolysaccharidosis, or MPS I.) Sniderman King is based in Washington State, in Seattle; Sullivan, in New York City. Their task often involves being among the first to explain what a Gaucher disease type 1 diagnosis can mean, in very real terms, to those who have it, and to their families. Because the symptoms can vary widely, even among siblings, there may be other family members who have it and don t know it, Sniderman King said, so we can help them get care and facilitate testing if they want. Every family reacts differently, Sullivan said. Some are very interested in supporting family members with the disease and what they are going through. Others are Please see accompanying full Prescribing Information. Winter 2011/2012 / Horizons 7

8 supportive but don t want to think it could happen to them. And others don t want to deal with it at all, Sullivan said. I might question them about their understanding of how they got it, Sniderman King said. If they don t know, would they like to know more about it? Then we can review the pattern of inheritance and what the chances are of other family members having the disease. Creating Connections The hardest part of the work, Sullivan said, isn t dealing with the differing family reactions, or visiting families in their homes but finding enough time to be there for everyone who needs help. A lot of times it just requires a lot of empathy, she said, sometimes putting families in touch with other families is helpful. The stressful part of my job is trying to have enough time for all of my patients having enough time to reach out proactively instead of just being reactive, Sullivan said. It s the geography. It is difficult to be everywhere at all times. That is our biggest downside at this point. The satisfactions come, Sullivan said, when families find strength and solace in the information they receive, and when families meet other families who suffer from the same illness. I want to be able to connect with everybody. Not everybody needs my services, but my goal is to help reach everyone and identify areas where I can be of help to them, Sullivan said. If they don t need anything, then great. Then they know they have one more person in their corner, and who doesn t need one more person in their corner? Patient Perspectives on Patient Education Liaisons By Cheryl Alkon Albert McWilliams Before Albert McWilliams collapsed while working as part of the maintenance crew at a local Walmart, he d never so much as had a cold. After he collapsed, he was rushed to the hospital and learned he had a hip fracture. Albert and his wife Donna were mystified as doctors tried but failed to figure out what was wrong. McWilliams was erroneously diagnosed with backaches, muscle spasms, osteoporosis, and Paget s disease. After a frustrating 2 years during which he was in constant pain from the waist down, bedridden, and once begged to have his legs cut off because his pain was so severe a doctor finally told him he had Gaucher disease type 1. But he still didn t get the optimal care he needed right away. We went through 3 years when we were searching for doctors that could provide the care we needed, said Donna, now 52, his wife of 20 years. [Albert] was on half doses of Cerezyme (imiglucerase for injection), and a doctor tried to get him weaned off it because the physician, at the time, didn t understand that such therapy is lifelong. Frustrated, Donna went online to learn more as she and Albert, now 60, moved to Memphis, Tennessee. Through Genzyme s website, Donna found a nearby doctor who was an expert in Gaucher disease type 1, and also met Marcella Lawrence, a Genzyme Patient Education Liaison (PEL) based in Tennessee. Lawrence was able to help the McWilliamses receive the care medical and emotional that they needed. And for the first time, Albert and Donna didn t feel so alone. We were invited to a Christmas party [a patient meeting organized by Lawrence and sponsored by Genzyme] and got to meet other people, said Donna. We had never met others with Gaucher before. Marcella would take the time to help us through emotionally, said Donna McWilliams. Today, 9 years after first being diagnosed with Gaucher disease type 1, her once-bedridden husband can walk with a cane and has a life again. I put out fires, and I do a lot of patient meetings, said Lawrence, who has worked as a PEL for 7 years and oversees approximately 400 patients including about 250 with Gaucher disease type 1 in Tennessee, Georgia, Mississippi, and Florida. It s the best job, because we have the luxury of working so closely with the patients. I believe it s one of the most satisfying jobs at Genzyme. The amount of information she shared with us it helped us realize we weren t the only ones dealing with this, said Donna McWilliams. Seriously, we wouldn t know what to do without Marcella. Nancy McCorry When Nancy McCorry s health insurance changed in 2010, she worried about how her Gaucher disease type 1 care might change. The New Jersey resident, now 45, had been receiving infusion therapy at a hospital for the prior 5 years but learned she would qualify for home care infusions with her new coverage. When I was meeting a new nurse for the first time, I felt nervous as to how the infusion was going to go, she said. I wanted to be comfortable knowing she knew how to handle the medicine, how to mix it, and how to infuse it. McCorry s PEL, Kathleen O Keeffe, has worked for the past 5 years with approximately 300 patients in New York and New Jersey. O Keeffe talked to the new nurse and even attended McCorry s first home infusion visit to help oversee the process. They [the patients] can sit with us and share their comments, concerns, and stresses, O Keeffe said. We provide ongoing support to all patients that have signed HIPAA (Health Insurance Portability and Accountability Act) consent with Genzyme. We help support the management of any clinical issues and adherence to treatment recommendations. We then help facilitate this information back to the patient s primary physician and healthcare advocates to help optimize their care. Kathleen was so knowledgeable, personable, and approachable, and I even learned a lot about my own disease that day, said McCorry. My new nurse did as well, and it was a great experience for all. After my treatment, that day, Kathleen followed up with me and gave me great comfort that I was in good hands. And almost a year later, I still love my new nurse. Kathleen was instrumental in making the transition completely seamless and nonstressful. 8 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

9 If you have enjoyed this issue of Horizons, please let us know by completing and returning the postage-paid Business Reply Card below. Do you feel you have been kept informed on the Cerezyme supply issue? Yes No How can Genzyme communicate better? What channels are you using to keep informed? Your physician Cerezyme supply website Your Genzyme Case Manager Other National Gaucher Foundation What different form of communication would you like to see used if any? Would you be interested in sharing your story of living with Gaucher disease? If so, please fill in the following: Name Address City State Zip Phone CZ-US-P

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11 200 UNITS 400 UNITS (0.12 ± 0.02 L/kg). These variables do not appear to be influenced by dose or duration of infusion. However, only one or two patients were studied at each dose level and infusion rate. The pharmacokinetics of Cerezyme do not appear to be different from placental-derived alglucerase (Ceredase ). In patients who developed IgG antibody to Cerezyme, an apparent effect on serum enzyme levels resulted in diminished volume of distribution and clearance and increased elimination half-life compared to patients without antibody (see WARNINGS). DESCRIPTION Cerezyme (imiglucerase for injection) is an analogue of the human enzyme ß-glucocerebrosidase, produced by recombinant DNA technology. ß-Glucocerebrosidase (ß-D-glucosyl-N-acylsphingosine glucohydrolase, E.C ) is a lysosomal glycoprotein enzyme which catalyzes the hydrolysis of the glycolipid glucocerebroside to glucose and ceramide. Cerezyme is produced by recombinant DNA technology using mammalian cell culture (Chinese hamster ovary). Purified imiglucerase is a monomeric glycoprotein of 497 amino acids, containing 4 N-linked glycosylation sites (Mr = 60,430). Imiglucerase differs from placental glucocerebrosidase by one amino acid at position 495, where histidine is substituted for arginine. The oligosaccharide chains at the glycosylation sites have been modified to terminate in mannose sugars. The modified carbohydrate structures on imiglucerase are somewhat different from those on placental glucocerebrosidase. These mannose-terminated oligosaccharide chains of imiglucerase are specifically recognized by endocytic carbohydrate receptors on macrophages, the cells that accumulate lipid in Gaucher disease. Cerezyme is supplied as a sterile, non-pyrogenic, white to off-white lyophilized product. The quantitative composition of the lyophilized drug is provided in the following table: Ingredient 200 Unit Vial 400 Unit Vial Imiglucerase (total amount)* 212 units 424 units Mannitol 170 mg 340 mg Sodium Citrates 70 mg 140 mg (Trisodium Citrate) (Disodium Hydrogen Citrate) (52 mg) (18 mg) (104 mg) (36 mg) Polysorbate 80, NF 0.53 mg 1.06 mg Citric Acid and/or Sodium Hydroxide may have been added at the time of manufacture to adjust ph. *This provides a respective withdrawal dose of 200 and 400 units of imiglucerase. An enzyme unit (U) is defined as the amount of enzyme that catalyzes the hydrolysis of 1 micromole of the synthetic substrate para-nitrophenyl-ß-d-glucopyranoside (pnp-glc) per minute at 37 C. The product is stored at 2-8 C (36-46 F). After reconstitution with Sterile Water for Injection, USP, the imiglucerase concentration is 40 U/mL (see DOSAGE AND ADMINISTRATION for final concentrations and volumes). Reconstituted solutions have a ph of approximately 6.1. CLINICAL PHARMACOLOGY Mechanism of Action/Pharmacodynamics Gaucher disease is characterized by a deficiency of ß-glucocerebrosidase activity, resulting in accumulation of glucocerebroside in tissue macrophages which become engorged and are typically found in the liver, spleen, and bone marrow and occasionally in lung, kidney, and intestine. Secondary hematologic sequelae include severe anemia and thrombocytopenia in addition to the characteristic progressive hepatosplenomegaly, skeletal complications, including osteonecrosis and osteopenia with secondary pathological fractures. Cerezyme (imiglucerase for injection) catalyzes the hydrolysis of glucocerebroside to glucose and ceramide. In clinical trials, Cerezyme improved anemia and thrombocytopenia, reduced spleen and liver size, and decreased cachexia to a degree similar to that observed with Ceredase (alglucerase injection). Pharmacokinetics During one-hour intravenous infusions of four doses (7.5, 15, 30, 60 U/kg) of Cerezyme (imiglucerase for injection), steady-state enzymatic activity was achieved by 30 minutes. Following infusion, plasma enzymatic activity declined rapidly with a half-life ranging from 3.6 to 10.4 minutes. Plasma clearance ranged from 9.8 to 20.3 ml/min/kg (mean ± S.D., 14.5 ± 4.0 ml/min/kg). The volume of distribution corrected for weight ranged from 0.09 to 0.15 L/kg INDICATIONS AND USAGE Cerezyme (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions: a. anemia b. thrombocytopenia c. bone disease d. hepatomegaly or splenomegaly CONTRAINDICATIONS There are no known contraindications to the use of Cerezyme (imiglucerase for injection). Treatment with Cerezyme should be carefully re-evaluated if there is significant clinical evidence of hypersensitivity to the product. WARNINGS Approximately 15% of patients treated and tested to date have developed IgG antibody to Cerezyme (imiglucerase for injection) during the first year of therapy. Patients who developed IgG antibody did so largely within 6 months of treatment and rarely developed antibodies to Cerezyme after 12 months of therapy. Approximately 46% of patients with detectable IgG antibodies experienced symptoms of hypersensitivity. Patients with antibody to Cerezyme have a higher risk of hypersensitivity reaction. Conversely, not all patients with symptoms of hypersensitivity have detectable IgG antibody. It is suggested that patients be monitored periodically for IgG antibody formation during the first year of treatment. Treatment with Cerezyme should be approached with caution in patients who have exhibited symptoms of hypersensitivity to the product. Anaphylactoid reaction has been reported in less than 1% of the patient population. Further treatment with imiglucerase should be conducted with caution. Most patients have successfully continued therapy after a reduction in rate of infusion and pretreatment with antihistamines and/or corticosteroids. PRECAUTIONS General In less than 1% of the patient population, pulmonary hypertension and pneumonia have also been observed during treatment with Cerezyme (imiglucerase for injection). Pulmonary hypertension and pneumonia are known complications of Gaucher disease and have been observed both in patients receiving and not receiving Cerezyme. No causal relationship with Cerezyme has been established. Patients with respiratory symptoms in the absence of fever should be evaluated for the presence of pulmonary hypertension. Therapy with Cerezyme should be directed by physicians knowledgeable in the management of patients with Gaucher disease. Caution may be advisable in administration of Cerezyme to patients previously treated with Ceredase (alglucerase injection) and who have developed antibody to Ceredase or who have exhibited symptoms of hypersensitivity to Ceredase. 65

12 Carcinogenesis, Mutagenesis, Impairment of Fertility Studies have not been conducted in either animals or humans to assess the potential effects of Cerezyme (imiglucerase for injection) on carcinogenesis, mutagenesis, or impairment of fertility. Teratogenic Effects: Pregnancy Category C Animal reproduction studies have not been conducted with Cerezyme (imiglucerase for injection). It is also not known whether Cerezyme can cause fetal harm when administered to a pregnant woman or can affect reproductive capacity. Cerezyme should not be administered during pregnancy except when the indication and need are clear and the potential benefit is judged by the physician to substantially justify the risk. Nursing Mothers It is not known whether this drug is excreted in human milk. Because many drugs are excreted in human milk, caution should be exercised when Cerezyme (imiglucerase for injection) is administered to a nursing woman. Pediatric Use The safety and effectiveness of Cerezyme (imiglucerase for injection) have been established in patients between 2 and 16 years of age. Use of Cerezyme in this age group is supported by evidence from adequate and well-controlled studies of Cerezyme and Ceredase (alglucerase injection) in adults and pediatric patients, with additional data obtained from the medical literature and from long-term post-marketing experience. Cerezyme has been administered to patients younger than 2 years of age, however the safety and effectiveness in patients younger than 2 have not been established. ADVERSE REACTIONS Since the approval of Cerezyme (imiglucerase for injection) in May 1994, Genzyme has maintained a worldwide post-marketing database of spontaneously reported adverse events and adverse events discussed in the medical literature. The percentage of events for each reported adverse reaction term has been calculated using the number of patients from these sources as the denominator for total patient exposure to Cerezyme since Actual patient exposure is difficult to obtain due to the voluntary nature of the database and the continuous accrual and loss of patients over that span of time. The actual number of patients exposed to Cerezyme since 1994 is likely to be greater than estimated from these voluntary sources and, therefore, the percentages calculated for the frequencies of adverse reactions are most likely greater than the actual incidences. Experience in patients treated with Cerezyme has revealed that approximately 13.8% of patients experienced adverse events which were judged to be related to Cerezyme administration and which occurred with an increase in frequency. Some of the adverse events were related to the route of administration. These include discomfort, pruritus, burning, swelling or sterile abscess at the site of venipuncture. Each of these events was found to occur in < 1% of the total patient population. Symptoms suggestive of hypersensitivity have been noted in approximately 6.6% of patients. Onset of such symptoms has occurred during or shortly after infusions; these symptoms include pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing, cyanosis, and hypotension. Anaphylactoid reaction has also been reported (see WARNINGS). Each of these events was found to occur in < 1.5% of the total patient population. Pre-treatment with antihistamines and/or corticosteroids and reduced rate of infusion have allowed continued use of Cerezyme in most patients. Additional adverse reactions that have been reported in approximately 6.5% of patients treated with Cerezyme include: nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Each of these events was found to occur in < 1.5% of the total patient population. Incidence rates cannot be calculated from the spontaneously reported adverse events in the post-marketing database. From this database, the most commonly reported adverse events in children (defined as ages 2 12 years) included dyspnea, fever, nausea, flushing, vomiting, and coughing, whereas in adolescents (>12 16 years) and in adults (>16 years) the most commonly reported events included headache, pruritus, and rash. In addition to the adverse reactions that have been observed in patients treated with Cerezyme, transient peripheral edema has been reported for this therapeutic class of drug. OVERDOSE Experience with doses up to 240 U/kg every 2 weeks have been reported. At that dose there have been no reports of obvious toxicity. DOSAGE AND ADMINISTRATION Cerezyme (imiglucerase for injection) is administered by intravenous infusion over 1-2 hours. Dosage should be individualized to each patient. Initial dosages range from 2.5 U/kg of body weight 3 times a week to 60 U/kg once every 2 weeks. 60 U/kg every 2 weeks is the dosage for which the most data are available. Disease severity may dictate that treatment be initiated at a relatively high dose or relatively frequent administration. Dosage adjustments should be made on an individual basis and may increase or decrease, based on achievement of therapeutic goals as assessed by routine comprehensive evaluations of the patient s clinical manifestations. Cerezyme should be stored at 2-8 C (36-46 F). After reconstitution, Cerezyme should be inspected visually before use. Because this is a protein solution, slight flocculation (described as thin translucent fibers) occurs occasionally after dilution. The diluted solution may be filtered through an in-line low protein-binding 0.2 μm filter during administration. Any vials exhibiting opaque particles or discoloration should not be used. DO NOT USE Cerezyme after the expiration date on the vial. On the day of use, after the correct amount of Cerezyme to be administered to the patient has been determined, the appropriate number of vials are each reconstituted with Sterile Water for Injection, USP. The final concentrations and administration volumes are provided in the following table: 200 Unit Vial 400 Unit Vial Sterile water for reconstitution 5.1 ml 10.2 ml Final volume of reconstituted product 5.3 ml 10.6 ml Concentration after reconstitution 40 U/mL 40 U/mL Withdrawal volume 5.0 ml 10.0 ml Units of enzyme within final volume 200 units 400 units A nominal 5.0 ml for the 200 unit vial (10.0 ml for the 400 unit vial) is withdrawn from each vial. The appropriate amount of Cerezyme for each patient is diluted with 0.9% Sodium Chloride Injection, USP, to a final volume of ml. Cerezyme is administered by intravenous infusion over 1-2 hours. Aseptic techniques should be used when diluting the dose. Since Cerezyme does not contain any preservative, after reconstitution, vials should be promptly diluted and not stored for subsequent use. Cerezyme, after reconstitution, has been shown to be stable for up to 12 hours when stored at room temperature (25 C) and at 2-8 C. Cerezyme, when diluted, has been shown to be stable for up to 24 hours when stored at 2-8 C. Relatively low toxicity, combined with the extended time course of response, allows small dosage adjustments to be made occasionally to avoid discarding partially used bottles. Thus, the dosage administered in individual infusions may be slightly increased or decreased to utilize fully each vial as long as the monthly administered dosage remains substantially unaltered. HOW SUPPLIED Cerezyme (imiglucerase for injection) is supplied as a sterile, non-pyrogenic, lyophilized product. It is available as follows: 200 Units per Vial NDC Units per Vial NDC Store at 2-8 C (36-46 F). Rx only Cerezyme (imiglucerase for injection) is manufactured by: Genzyme Corporation 500 Kendall Street Cambridge, MA USA Certain manufacturing operations may have been performed by other firms. Cerezyme and Genzyme are registered trademarks of Genzyme Corporation. 6LE0005D

13 Seven Tests to Determine the Best Treatment for Gaucher Disease By Margie Schultz o determine the best treatments for Gaucher disease type 1, doctors must first examine the T patient and find out his or her medical history, then order several tests. This information will enable the doctor to set the patient s individual treatment goals. Patients should have comprehensive monitoring tests at least once a year. Even if they are feeling well and currently are not receiving specific treatment, a yearly assessment can determine if they are experiencing any of the damaging effects of Gaucher disease type 1. What s Happening Inside the Body? In Gaucher disease type 1, changes can take place in several organs of the body, including the following 1 : Bones can become thinner, weaker than normal, and prone to fracture. 2 Blood involvement may include: low red blood cells, platelet, and white blood cell counts. 2 The spleen can swell up to 75 times its normal size. 2 The liver can enlarge up to 2½ times its normal size. 2 Diagnostic Tests for Gaucher Disease The tests below can arm the doctor and patient with the information needed to assess the status of the disease, evaluate the effectiveness of an existing treatment plan, or determine the important next steps in therapy. Scans Doctors can choose one or more of the recommended scans for Gaucher disease type 1: x-rays, magnetic resonance imaging (MRI), dual-energy x-ray absorptiometry (DEXA), and computed tomography (CT). Test #1: X-ray: Detects fractures and late bone problems. However, it is not the best way to assess changes in the bone marrow, the strength of bones, or early signs of bone disease. 3,4 Test #2: MRI of the Bones: Uses magnets and radio waves to make three-dimensional pictures of parts of the body. MRI is a powerful and sensitive tool for monitoring the bones. 3,4 Test #3: DEXA of the Bones: Measures bone mineral density (BMD), which indicates bone strength. 4 Test #4: MRI or CT of the Liver and Spleen: Produces pictures of the inside of the abdomen. These can show the size and structure of the spleen and liver. 3,4 Blood Tests Having regular blood tests can help the doctor find and treat problems early. Below are some commonly used tests for Gaucher disease type 1. Test #5: Hemoglobin Test: Measures the total amount of hemoglobin in the blood. Hemoglobin, a part of red blood cells, carries oxygen. A low hemoglobin level is a sign of anemia. 3 Test #6: Platelet Count: Measures the number of platelets in the blood. Platelets are needed for clotting blood. A low platelet count may be the cause of bruising and bleeding. 3 Test #7: Biochemical Evaluations: Specific blood tests that can pick up subtle changes in the disease and are useful for some patients. 3 Teaming Up With the Healthcare Team Gaucher disease type 1 can affect many aspects of a patient s life. The healthcare team needs to know how the disease is affecting a patient s well-being. To do that, the doctor or nurse may ask a patient several questions about changes in his or her quality of daily life. Healthcare providers may ask a patient to complete a questionnaire called an SF-36 Health Survey. It contains questions and possible responses such as the following: How would you rate your health today? (excellent, good, fair, poor) How does your health today compare with your health last year? (same, better, worse) How does your health affect your ability to do certain activities? (limited a lot, a little, not at all) Please see accompanying full Prescribing Information. Winter 2011/2012 / Horizons 13

14 The answers can help the medical team discuss the impact of the disease with patients and suggest strategies to help them cope. It s always helpful to make a list of questions to discuss with the doctor in preparation for the next visit. For instance, questions patients might want to ask their doctors about their blood test results are: How are these results different from past results? What do these results mean for my treatment? How often will I need follow-up blood tests? When patients become partners with their medical team in the treatment of Gaucher disease, everyone wins. References 1. Goker-Alpan, O. Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future. Mol Genet Metab. 2011;104(4): Pastores GM, Hughes DA. Gaucher disease, in: Pagon RA, Bird TD, Dolan CR, Stephens K, editors.genereviews [Internet]. Seattle (WA): University of Washington, Seattle; Jul 27 [updated 2011 Jul 21]. Accessed December 15, New York Times Health Guide: Gaucher Disease. Exams and tests. Accessed December 15, Maas M, Poll LW, Terk MR. Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol. 2002;75 Suppl 1:A A Patient Who Put the T in Team Colleen Keegan was diagnosed with Gaucher disease in 1962, when she was 14 years old. At the time, there were few treatments and little was known about the disorder. Her disease progressively worsened, and by the time Colleen reached her early 40s, it had taken a toll on her overall health. My hemoglobin level was at 6 and my platelet count was at 6000, she said. Her condition became so critical that she had to undergo regular blood transfusions. I could barely walk, she recalled. In October 1990, she read an article in her local newspaper about an experimental medication being tested as a treatment for Gaucher disease type 1. Because I came across that article and learned about a drug that was an earlier version of Cerezyme, Ceredase (alglucerase for injection), I believe my life has improved so dramatically, she said. Colleen showed the newspaper article to her doctor and to her hematologist. They agreed the new therapy was very exciting, but said because it was considered experimental and would be difficult to initiate. Colleen did not give up. She tried to get accepted for a trial but was rejected because she had had her spleen removed earlier. Several months later, Colleen read that the US Food and Drug Administration had approved the medication. Through her physicians, she contacted Genzyme about starting regular treatment. A Genzyme representative and Colleen s physicians worked together to secure coverage for the treatment from her insurance provider. Colleen s condition responded to the new treatment. I felt I had energy for the first time, she said after treatment. Teaming up with her physician, her hematologist, and Genzyme enabled Colleen to get the treatment she needed to combat Gaucher disease type 1. Speaking up about their own health is the most powerful tool that patients have in confronting illness head on and winning. Indications and Usage Cerezyme (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of type 1 Gaucher disease that results in one or more of the following conditions: anemia (low red blood cell count), thrombocytopenia (low blood platelet count), bone disease, hepatomegaly or splenomegaly (enlarged liver or spleen). Important Safety Information Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic reaction (hypersensitivity). Use Cerezyme (imiglucerase for injection) carefully if you have had an allergic reaction to the product in the past. Symptoms suggestive of allergic reaction happen in 6.6% of patients, and include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Side effects related to Cerezyme administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported side effects include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Cerezyme is available by prescription only. For more information, consult your physician. To learn more, please see the enclosed full product information or contact Genzyme at (option 2). Please see accompanying full Prescribing Information on pages Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

15 Talking to Siblings of Children With Gaucher Disease Type 1 By Cheryl Alkon W hen Betsy Simon was diagnosed with Gaucher disease type 1, nearly 30 years ago, at age 3, her doctor first thought she had a kidney tumor. After a routine check-up with her pediatrician, Simon was admitted to the local hospital and spent a week there with her mother. As she and her mother learned about Gaucher disease type 1, which in those days had no treatment, Simon s then 5-year-old brother Michael stayed at home with their father. It was a confusing time. This series of events occurred shortly after the family had moved to Philadelphia. Imagine moving to a new city and having your mother disappear for a week, explained Simon. Once her family learned about Gaucher disease type 1, Simon said, her parents often focused on her. I certainly got more of the fair share of the attention growing up, said Simon, now 32. My mother wanted to go out and buy the whole toy store for me. But it s important to make sure the healthy child isn t ignored. Open Communication It s important to discuss a child s Gaucher disease type 1 with his or her siblings, whether the diagnosis comes as a surprise or whether it is already established by the time a sibling is born. Brothers and sisters who learn about what Gaucher disease type 1 is including treatments, how genetics play a role, and how a person s status with Gaucher disease type 1 can affect the health of immediate offspring or future generations all play a key role in understanding what it means to live with Gaucher disease type 1 in the family. Poor or no communication with siblings of an affected person can lead to confusion about the risk to themselves and their offspring, said Gary S. Frohlich, a Certified Genetic Counselor and a Senior Patient Education Liaison with Genzyme. This, in turn, could lead to poor reproductive decisions, lowered self-esteem, and a decay of the cohesiveness of the family unit. In a study published this year in the Journal of Genetic Counseling, 1 researchers in the United Kingdom interviewed siblings and parents from 33 families that included children Please see accompanying full Prescribing Information. Winter 2011/2012 / Horizons 15

16 diagnosed with different inherited genetic conditions. These conditions included cystic fibrosis and Duchenne muscular dystrophy, among others. (Gaucher disease type 1 was not represented in the study.) In the research, titled Parents Communication with Siblings of Children Affected by an Inherited Genetic Condition, the study s authors found that siblings wanted to learn about the affected child s condition, but were more likely to see how the condition was managed, rather than being fully aware of the genetic risk of developing or passing on the condition itself. From as young as 8 years, they began to understand the notion of heredity in terms of the condition being passed down through the family, writes researcher Alison Metcalfe, of the Florence Nightingale School of Nursing and Midwifery at King s College London. However, although they understood the dayto-day impact of the condition by 8 to 11 years, most could not describe the heredity patterns or accurately quantify risk until they were 15 to 16 years or older. The researchers added that siblings who were at risk of being carriers did not usually have any idea how many people in the population might be carriers, and thus what the chance might be of them meeting a partner who was also a carrier. According to the National Gaucher Foundation, Gaucher carriers may be as common as 1 in 10 Jewish people of Eastern European ancestry, and 1 in 200 people in the general population. One program has been established to help prevent the transmission of a number of genetic disorders, primarily among the Orthodox Jewish population. Known as Dor Yeshorim, the program assigns people numbers for anonymity and gives blood tests for susceptibility to a number of genetic disorders found predominantly among the Jewish population (the program can test for Gaucher disease type 1 carrier status upon request). Once a couple begins thinking about marriage, typically early in the dating process among Orthodox Jews, the couple can submit their numbers and learn if they are genetically compatible or whether or not it makes sense to consider other partners. What To Say Whether your family s background is Orthodox Judaism or something else, how do you talk to your children about Gaucher? It depends on their age, maturity level, and other factors. It s like talking to your kids about sex as they grow up, said Frohlich. If you listen to their questions and answer their questions, you ll provide an answer that is age appropriate. You don t want to overwhelm a child with too much information. You don t necessarily need to 16 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

17 elaborate beyond their question, because that s not what they re asking. While some parents actively decide to withhold details about genetic diseases from their unaffected children, subjects in the UK study reported that those siblings hungered for more, rather than less, knowledge. Affected and unaffected children of all ages (8 years upwards) consistently said they wanted to receive information about the genetic condition from a young age, the study authors wrote. Children wanted to be able to discuss this information within their families throughout childhood. Parents and children in the study said that they did not regret discussing the genetic illness among the family, but for those families who specifically did not talk about the conditions, the unaffected children were more likely to show resentment or withdraw from the affected child, wrote study authors. Children in families where the condition was discussed more openly still expressed uncertainties and concerns, but they also demonstrated understanding for their affected sibling and a better understanding of their role within their family. Frohlich noted that siblings of children with Gaucher disease type 1 often receive relatively little support outside of the family, a point also emphasized by the study s authors. Parents need to specifically consider siblings in terms of their information needs and inclusion in family discussions, they wrote. They need to tell them they are open to discussing the condition with them, and continue talking to them as they grow up Genetic counselors and other health professionals should support the whole family as a unit, which includes helping parents to realize the importance of including unaffected siblings in this coping process. Where to Find Support Frohlich is one of Genzyme s team of Patient Education Liaisons, representatives who work together with Gaucher patients and their healthcare team to ensure the best care and optimal treatments for those living with Gaucher disease type 1. This can include finding resources, including support groups or mental health providers who can offer siblings help and insight. Elsewhere, the National Gaucher Foundation offers a Mentor Program that enables people to or telephone others living with Gaucher. The group of available mentors includes people diagnosed with Gaucher, as well as parents of children with Gaucher, either directly or as parents, to offer advice about talking to siblings. (See program.php). Rosalie Borovetz is a National Gaucher Foundation Mentor based in Pennsylvania; her daughter Betsy was diagnosed with Gaucher at age 3 in The elder Borovetz said that she was always open with her son, Michael, who is 2 years older, about his sister s condition just as she was with her affected daughter. My son was always aware of his sister s Gaucher and the treatment she was receiving, she said. We spoke frankly with him without alarming him. I think it is important for siblings to know and understand when treatment is planned, and it should be explained to them in the same way it would be explained to the patient. Siblings should be allowed to be present during treatment, and if an in-patient admission is necessary, they should be allowed to visit the hospital. Like Betsy Simon, Borovetz discussed the importance of acknowledging the unaffected child s needs. It s important to include siblings when considering treatment options, Borovetz said. Sometimes the Gaucher child becomes the focus of attention, and the other siblings get less time and attention from parents. But they also need quality time and attention. Today, Borovetz s son is in his early 30s and single. As a Gaucher disease type 1 carrier, he talks to potential mates about his sister s condition and would expect his spouse to be tested before starting a family, she said. For Betsy Simon, who is an Orthodox Jew, having Gaucher disease type 1 was not an issue when she met her husband, though it can be among a community where being a carrier, or having Gaucher disease type 1 itself, can be seen as a stigma. Her two daughters, ages 9 and 2, have watched their mother receive infusion therapy every 2 weeks and for them, that is normal. Both girls are Gaucher disease type 1 carriers, which Simon plans to discuss with them. We plan to talk to them about what that means, and whether they d want to marry another carrier, she said. Her husband, who does not have any gene for Gaucher disease type 1, never had an issue with Simon s condition, and it is something Simon hopes her own children will find when they are ready to consider marriage. I am sure when my kids are ready to get married, they may find that people may reject them because they are Gaucher carriers, said Simon. But the older I get, the more you really realize that the people who might give you a hard time about being a Gaucher carrier there are other reasons to avoid them. When you find the right match, you ve found it. Reference 1. Plumridge G, Metcalfe A, Coad J, Gill P. Parents communication with siblings of children affected by an inherited genetic condition. J Genet Counsel. 2011;20: Please see accompanying full Prescribing Information. Winter 2011/2012 / Horizons 17

18 Understanding the Progression of Gaucher Disease Type 1 G aucher disease type 1 is progressive, meaning that it worsens over time when left untreated. The rate of progression and specific signs and symptoms can vary widely from one person to another. Some people with Gaucher disease type 1 experience symptoms during childhood, while others remain symptom-free well into adulthood. Some advanced signs and symptoms that may develop from Gaucher disease type 1 include advanced liver disease, advanced bone disease, pulmonary hypertension (high blood pressure in the arteries of the lungs), and decreased life expectancy. 1 The dangers of unchecked Gaucher disease type 1 highlight the importance of being diagnosed, monitored regularly, and treated as early as possible. Unchecked Path of the Disease Several conditions can occur with untreated Gaucher disease type 1 that affect the bone, liver, spleen and blood. Bone Complications 2,3 Gaucher disease type 1 can cause reduced mass and density of bone tissue, weakening the bones. The disease s bonerelated symptoms can be particularly painful and debilitating, and impair a person s ability to walk. The severity of bone disease in patients with Gaucher disease type 1 varies according to several different factors, including age, whether or not the patient has had his or her spleen removed, and stage of progression. Some patients have few complaints about their bones, while others may suffer symptoms so severe they require a wheelchair. More than 80% of patients with Gaucher disease type 1 have evidence of bone involvement, 4 which can cause serious skeletal and joint-related conditions. Individuals often have an ongoing need for rehabilitation therapy, and orthopedic and pain management. Fractures due to bone lesions or thinning of the bone may occur. These are sometimes due to removal of the spleen. Today, removal of the spleen is much less common and is generally considered an emergency option based on the individual patient s condition and needs. Children with Gaucher disease type 1 can also have skeletal involvement. They often are shorter than children without Gaucher disease. However, most of these children catch up to their peers in puberty, which can be delayed. 3 Identifying the disease in children based on symptomatology can present its own challenges, because it s difficult for doctors to predict a child s growth pattern or what signs/symptoms he or she may experience. Therefore, children require follow-ups to ensure proper treatment. Future Therapy Since its discovery, enzyme replacement therapy with Cerezyme (imiglucerase for injection) has been shown to help reduce, relieve, or reverse many of the signs and symptoms of Gaucher disease type 1. Now, Genzyme is researching an oral therapy that would be delivered as a pill. Genzyme is testing the new therapy in more than 300 patients worldwide. The potential new therapy may allow patients with Gaucher disease type 1 to take a medication orally twice a day rather than an infusion therapy every 2 weeks. If the oral medication is approved for use in adults, then Genzyme will begin testing the new medication in children. Reference Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.