TABLE OF CONTENTS Cystinosis 2 Fabry Disease 3 Gaucher Disease 4 RARE DISEASE TREATMENT RESOURCE GUIDE
Cystinosis Brand Name Procysbi TM Cystagon TM Cystaran TM Generic Name Cysteamine bitartrate delayed release Cysteamine bitartrate Cysteamine HCL Manufacturer Horizon Mylan Sigma-Tau Indication Mechanism of Action Route of Administration PROCYSBI is a cystine-depleting agent indicated for the treatment of nephropathic cystinosis in adult and pediatric patients 2 years of age and older. Cystine-depleting agent Cystine-depleting agent Cystine-depleting agent Oral Oral Eye-drops Recommended Dose How Supplied Reconstitution Volume Further Dilution Final Volume 0.2ug in-line, low protein binding filter Protect from light The recommended starting dosage of PROCYSBI for cysteamine-naïve patients is 0.2 to 0.3 grams/m 2 per day divided into two doses given every 12 hours. Increase the dosage gradually over 4 to 6 weeks until the maintenance dosage is achieved to help reduce the risk of adverse reactions. The recommended maintenance dosage of PROCYSBI for cysteamine-naive patients is 1.3 gram/m 2 per day, divided into two equal doses given every 12 hours. Do not exceed 1.95 grams/m2 per day 25 and 75 mg capsules.
Comments Swallow capsules whole. Do not crush or chew capsules or capsule contents Take with fruit juice (except grapefruit juice). Do not eat for at least 2 hours before taking PROCYSBI and for at least 30 minutes after to maximize absorption.
FRONT SIDE RARE DISEASE TREATMENT RESOURCE GUIDE Fabry Disease Brand Name Fabrazyme TM Replagal TM Galafold TM Generic Name Agalsidase beta Agalsidase alfa Migalastat HCl Manufacturer Sanofi/Genzyme Shire Amicus Photo Indication Fabrazyme is indicated for use in patients with Fabry disease. The safety and efficacy in patients younger than 8 years has not been Replagal is indicated for long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. The safety and efficacy of Replagal in children aged 0-6 years has not yet been For the long-term treatment of adult or adolescent patients 16 years of older with a confirmed diagnosis of Fabry disease and who an an amenable mutation Mechanism of Action ERT ERT Chaperone Pediatric Use The safety and efficacy in patients younger than 8 years has not been The safety and efficacy of Replagal in children aged 0-6 years has not yet been The safety and efficacy in children aged 0-15 years has not been Route of Administration IV IV Oral Recommended Dose 1 mg/kg every other week 0.2 mg/kg every other week 150 mg every other day Infusion Time 1.5-4 hours Initial rate no more than 0.25 mg/min (15 mg/hr) 40 minutes How Supplied 5 mg Vials 35 mg Vials ( lyophilized powder single-use vials) Each vial of 3.5 ml of concentrate contains 3.5 mg of agalsidase alfa 123 mg (equivalent to 150 migalastat HCl) capsules are available in a blister pack containing 14 capsules BACK SIDE
RARE DISEASE TREATMENT RESOURCE GUIDE Fabry Disease Brand Name Fabrazyme TM Replagal TM Galafold TM Reconstitution Volume Sterile Water for Injection (USP) Add 1.1 ml to each 5 mg vial to yield 1 ml Add 7.2 ml to each 35 mg vial to yield 7 ml None Further Dilution with 0.9% Sodium Chloride Injection (USP) to a Final Volume as follows <35 kg= 50 ml 35.1-70 kg =100 ml 70.1-100 kg=250ml >100 kg= 500 ml Dilute the total volume of Replagal concentrate required in 100 ml of 9 mg/ml (0.9%) sodium chloride solution for infusion Example: 80 kg patient 80/ 5 mg/ml= 16 ml Use two 35 mg vials + two 5 mg vials 80 x 0.2 mg/kg= 16 mg 16/3.5= 4.5 vials 1 capsule every other day by mouth 0.2 micron in-line, low protein binding filter Yes Yes Protect from light No No No Premedications Antipyretic and/or antihistamine if needed Antipyretic and/or antihistamine if needed No IgG Antibodies 79% of adults Anaphylaxis Reported Yes ~1% No No Pregnancy Category B Caution should be exercised when prescribing to pregnant women Limited data on the use of Galafold in pregnant women Storage Refrigerate at 2-8. If immediate use is not possible, the reconstituted and diluted solution may be stored up to 24 hours at 2-8 Refrigerate at 2-8 If not used immediately, normally not be longer than 24 hours at 2 to 8 C, unless dilution has taken place in controlled and validated aseptic conditions Store in blister packs away from moisture Comments Do not use filter needles during preparation Take the medicine on an empty stomach, at least 2 hours before eating. If you have just eaten, wait for 2 hours before taking the capsule FRONT SIDE
RARE DISEASE TREATMENT RESOURCE GUIDE Gaucher Disease Brand Name Cerezyme TM VPRIV TM Elylsyo TM Cerdelga TM Zavesca TM Generic Name Imiglucerase Velaglucerase Taliglucerase Eliglustat tartrate Miglustat Manufacturer Sanofi Genzyme Shire Pfizer/Protalix Sanofi Genzyme Actelion Indication Cerezyme is indicated for the long-term enzyme replacement therapy for pediatric and adult patients with type1 Gaucher disease VPRIV is indicated for long-term enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease Elelyso (taliglucerase alfa) is indicated for long-term enzyme replacement therapy for the treatment of systemic symptoms in adult patients with a confirmed diagnosis of Gaucher disease Cerdelga is indicated for the long-term treatment of adult patients with Gaucher disease type 1 (GD1). It is not intended to be used in patients with GD2 or GD3. The target population is patients who are CYP2D6 intermediate (IM) or extensive (EM) metabolisers Zavesca is approved as second-line therapy when ERT is not a therapeutic option for patients with type 1 GD. In patients 4 years and older Mechanism of Action ERT ERT ERT SRT SRT Pediatric Use Has been administered to patients younger than 2 years of age; however, the safety and effectiveness has not been VPRIV should not be used in children under the age of 2 years. The safety and efficacy of Cerdelga in children and adolescents under the age of 18 years has not been In patients 4 years and older How Produced Modified form of human acid β-glucosidase and is produced by recombinant DNA technology using a mammalian Chinese Hamster Ovary ( CHO ) cell culture, with mannose modification for targeting macrophages Produced in an HT-1080 human fibroblast cell line by recombinant DNA technology A recombinant glucocerebrosidase similar to the human lysosomal glycoprotein enzyme β-glucocerebrosidase.the active substance is purified from genetically modified carrot cells grown in pre-sterilized disposable bioreactors Small Molecule Small Molecule Route of Administration IV IV IV Oral Oral Compared to wild-type 1 amino acid difference Identical to wild-type 10 amino acid difference Recommended Dose 60 u/kg administered every other week Dosage for which most data is available 60 u/kg administered every other week 60 Units/kg administered every other week The recommended dose is 84 mg eliglustat twice daily in CYP2D6 intermediate metabolisers (IMs) and extensive metabolisers (EMs). The recommended dose is 84 mg eliglustat once daily in CYP2D6 poor metabolisers (PMs). If a dose is missed, the prescribed dose should be taken at the next scheduled time; the next dose should not be doubled. 100 mg PO q8hr; decrease to daily or q12hr for patients with adverse effects.
RARE DISEASE TREATMENT RESOURCE GUIDE Gaucher Disease Brand Name Cerezyme TM VPRIV TM Elylsyo TM Cerdelga TM Zavesca TM Further Dilution with 0.9% Sodium Chloride Injection (USP) to a Final Volume as follows: The appropriate amount of Cerezyme for each patient is diluted with 0.9% Sodium Chloride Injection, USP, to a final volume of 100 200 ml The total volume required is diluted in 100 ml of sodium chloride 9 mg/ml (0.9%) solution for infusion Example: 80 kg patient 80kg x 60 Units/kg= 4800 units 4800 units/400 units/vial= 12 vials 80kg x 60 Units/kg= 4800 units 4800 units/400 units/vial= 12 vials 80kg x 60 Units/kg= 4800 units 4800 units/400 units/vial= 12 vials 84 mg once (PMs) or twice daily (IMs) 0.2 micron in-line, low protein binding filter Yes Yes Protect from light Not while infusing Not while infusing Not while infusing Premedication Not necessary Not necessary Anaphylaxis Reported No No Pregnancy Category C B As a precautionary measure, it is recommended to avoid the use of Cerdelga during pregnancy Storage 2-8 2-8 2-8 IgG Antibodies 15% 1% Comments Before initiation of treatment with Cerdelga, patients should be genotyped for CYP2D6 to determine the CYP2D6 metaboliser status Consumption of grapefruit or its juice should be avoided