FOUNDATION OVERVIEW. Over the past four decades, the Foundation has raised $600 million to put an end to retinal degenerative diseases.

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2 FOUNDATION OVERVIEW Passion and Focus The Foundation Fighting Blindness was established in 1971 by a passionate group of individuals driven to overcome blinding eye diseases that were affecting themselves or loved ones. At the time, very little was known about these devastating retinal diseases that lead to blindness. Key Facts about the Foundation Over the past 44 years, the Foundation has raised $600 million in its effort to reverse blindness and restore vision. Throughout its history, the Foundation has invested more than 75 percent of its revenue in research and public health education programs. The Foundation s goal was clear: To drive the research that would lead to preventions, treatments and vision restoration for retinal diseases including macular degeneration, retinitis pigmentosa, and Usher syndrome that together affect more than 10 million Americans and millions more throughout the world. Today, the Foundation is a thriving national nonprofit and the world s leading private source for inherited retinal disease research funding. FFB is committed to driving research until the entire spectrum of retinal degenerative diseases is eradicated. The Foundation has 50 volunteerled chapters across the U.S. These dedicated volunteers raise funds, increase public awareness, and provide support to their communities. Over the past four decades, the Foundation has raised $600 million to put an end to retinal degenerative diseases. In 2014, the Foundation kicked off Envision 20/20, a campaign to end blindness and raise the funds necessary for current and future research. To accelerate funding, Gordon Gund and his wife, Lulie, created The Gordon and Llura Gund Family Challenge, to raise $100 million in new gifts and matches by FOUNDATION OVERVIEW JUNE 2015

3 Foundation Overview Driving Research, Saving Vision Foundation-funded researchers are achieving remarkable success with a wide range of promising therapies for saving and restoring sight. Below are just a few examples of the research that is providing hope to millions affected by inherited vision loss. Gene Therapy Restores Vision The Foundation is funding translational research and clinical trials of gene therapy that have restored vision in patients who were virtually blind from a childhood form of retinitis pigmentosa. Thanks to the treatment, they can now enjoy some of life s simple joys, like reading and playing baseball. Repurposing Approved Drugs to Preserve Vision The Foundation is funding a cross cutting drug treatment developed by MitoChem Therapeutics, which has identified three compounds to boost mitochondrial function, or the energy fueling cells in the retina, showing potential for slowing vision loss caused by retinal diseases. In addition, Valproic acid has shown promise for preserving vision in people with a form of retinitis pigmentosa. The Foundation has launched a human trial to test this drug and, if effective, move it quickly out to patients who need it. Harnessing the Power of Stem Cells Foundation-funded researchers are using stem cells derived from a variety of sources, including a person s own skin, to create healthy retinal cells that can potentially restore vision. Stem cell treatments hold great promise for people with advanced vision loss. Funding the Best in Retinal Research The Foundation has funded studies at hundreds of prominent institutions throughout the world including: Wilmer Eye Institute, Johns Hopkins University School of Medicine Massachusetts Eye and Ear Infirmary, Harvard Medical School Insitut de la Vision in Paris, France Moorfields Eye Hospital, University College London Scheie Eye Institute, University of Pennsylvania The Foundation has given hope to people who didn t previously have hope, and supported the most important retinal research being carried out anywhere in the world. Thanks to the Foundation, I am confident that we will be able to treat many retinal diseases in the near future. Morton F. Goldberg, M.D. Johns Hopkins University School of Medicine FOUNDATION OVERVIEW JUNE 2015

4 RETINITIS PIGMENTOSA What is retinitis pigmentosa? Retinitis pigmentosa, also known as RP, refers to a group of inherited diseases causing retinal degeneration. The retina is a thin piece of tissue lining the back of the eye. It converts light into electrical signals which the brain interprets as vision. People with RP experience a gradual decline in their vision, because photoreceptor cells in the retina degenerate. Forms of RP and related diseases include Usher syndrome, Leber congenital amaurosis, and Bardet-Biedl syndrome, among others. What are the symptoms? Symptoms depend on whether rods or cones are initially involved. In most forms of RP, rods are affected first. Because rods are concentrated in the outer portions of the retina and are triggered by dim light, their degeneration affects peripheral and night vision. When the disease progresses and cones become affected, visual acuity, color perception and central vision are diminished. Night blindness is one of the earliest and most frequent symptoms of RP. People with mainly cone degeneration, however, first experience decreased central vision and reduced ability to discriminate colors and perceive details. RP is typically diagnosed in adolescents and young adults. It is a progressive disorder. The rate of progression and degree of visual loss varies from person to person. Most people with RP are legally blind by age 40, with a central visual field of less than 20 degrees in diameter. It is a genetic disorder and, therefore, is almost always inherited. How is RP inherited? An estimated 100,000 people in the U.S. have RP, mainly caused by gene mutations (variations) inherited from one or both parents. Mutated genes give the wrong instructions to photoreceptor cells, telling them to make an incorrect protein, or too little or too much protein. (Cells need the proper amount of particular proteins in order to function properly.) Mutations in dozens of genes have been linked to RP. Genetic mutations can be passed from parent to offspring through one of three genetic inheritance patterns autosomal recessive, autosomal dominant, or X-linked. SUMMER 2014

5 Retinitis Pigmentosa In autosomal recessive RP, both parents carry one copy of the mutated gene, but have no symptoms themselves. Children have a 25 percent chance of being affected by inheriting a mutated copy from each parent. In autosomal dominant RP, usually one parent is affected and is the only parent with a mutated gene. A child has a 50 percent chance of being affected through the inheritance of the mutated gene from the parent. In families with X-linked RP, the mother carries the mutated gene on an X chromosome, and her sons have a 50 percent chance of inheriting the condition. Daughters have a 50 percent chance of becoming carriers and aren t usually affected. However, some daughters are affected sometimes mildly, sometimes severely. If a family member is diagnosed with RP, it is strongly advised that other members of the family also have an eye exam by a physician who is specially trained to detect and treat retinal degenerative disorders. Discussing inheritance patterns and family planning with a genetic counselor can also be useful. What testing is available? Genetic testing is available for RP. It helps assess the risk of passing the disorder from parent to offspring. It also helps with attaining an accurate diagnosis. A patient with an accurate diagnosis is in a better position to keep track of new findings, research developments, and treatment approaches. A genetic diagnosis can also help a person qualify for clinical trials. More information on genetic testing is available at Extensive information on RP research and clinical trials of RP treatments, as well as low vision resources, are available at What treatment is available? While there are limited therapies for RP, the Foundation is supporting several promising avenues of research, including gene, stem cell and drug therapies. For the latest research advances for RP, refer to the Foundation publication Retinitis Pigmentosa: Research Advances. SUMMER 2014

6 AGE-RELATED MACULAR DEGENERATION What is age-related macular degeneration? Age-related macular degeneration, commonly referred to as AMD, is a retinal degenerative disease that causes a progressive loss of central vision. AMD is the most common cause of blindness in individuals over the age of 55 in developed countries. More than 10 million people in the United States have AMD. What is the biology behind AMD? The retina is packed with photoreceptors, the cells that enable us to see. Photoreceptors convert light into electrical impulses, which are transferred to the brain via the optic nerve. The macula is a small region in the center of the retina that s rich in cones, the photoreceptors that enable a person to perceive fine details and objects in daylight or lighted conditions. Central vision loss from AMD occurs when photoreceptors in the macula degenerate. What are the symptoms of AMD? People with AMD may first notice a blurring of central vision, especially during tasks such as reading or sewing. Also, straight lines may appear distorted or warped. As the disease progresses, blind spots may form within the central field of vision. In most cases, if one eye has AMD, the other eye has the condition or is at risk of developing it. The extent of central vision loss varies and can depend on the type of AMD dry or wet. Extensive information on research and treatments for AMD, as well as resources for individuals living with AMD, are available at SUMMER 2014

7 Age-Related Macular Degeneration What is dry AMD? Dry AMD accounts for about 90 percent of all cases, and usually causes less vision loss than wet AMD. A characteristic of dry AMD is the accumulation of tiny protein and fat deposits known as drusen underneath the retina. Many people have drusen which do not affect vision. However, drusen may interfere with the health of the macula, causing progressive degeneration of the photoreceptor cells and vision loss. Reduction in central vision from dry AMD occurs gradually over many years. Vision may even remain stable between eye examinations. People with dry AMD may not experience a total loss of central vision, but tasks that require the ability to perceive details may become more difficult. Most people with AMD start off with the dry form, which puts them at risk for developing wet. What is wet AMD? Wet AMD accounts for about 10 percent of all cases of macular degeneration. With wet AMD, abnormal blood vessels grow beneath the macula. These vessels leak blood and fluid into the macula and damage photoreceptor cells. Wet AMD often progresses rapidly and causes substantial loss of central vision, if left untreated. What treatments are available for AMD? Several therapies are now available for the wet form of AMD. Most involve regular ocular injections to halt the growth of leaky, visionrobbing blood vessels. The Foundation is funding dry AMD research, as well as approaches for preventing all forms of AMD. Current AMD treatments include the following: AREDS formulation The Age- Related Eye Disease Study (AREDS) a landmark investigation conducted by the National Eye Institute (NEI) determined that antioxidant supplementation can SUMMER 2014

8 Age-Related Macular Degeneration slow the progression of AMD. The AREDS formulation is an over-thecounter antioxidant supplement recommended for people who are at risk of developing more advanced forms of dry or wet AMD. The AREDS formulation includes the antioxidants beta carotene, vitamin E, and vitamin C, as well as the nutrients zinc and copper. The AREDS formulation contains specific amounts and forms of antioxidants nutrients; do not try to substitute multivitamins or dietary nutrients for the AREDS formulation. The NEI has completed a second AREDS study (AREDS2), which led to the recommendation that lutein replace beta carotene in the original AREDS formula. EYLEA (alflibercept) Regeneron s wet AMD treatment, Eylea, blocks the development of unhealthy blood vessels underneath the retina. Regeneron reports that in clinical trials, Eylea treated wet AMD as effectively as Lucentis, but with fewer intraocular injections. Typically, patients are treated monthly with Eylea for three months and every other month thereafter. Eylea was FDA approved in Lucentis (ranibizumab) Developed by Genentech, Lucentis is effective in reducing the risk of losing vision from the abnormal blood vessel growth under the retina associated with wet AMD. The treatment was approved by the FDA and made available in A two-year study showed that 95 percent of people with wet AMD who received monthly injections of Lucentis experienced no significant loss in visual acuity. Genentech also reported moderate visual improvement in 24.8 percent of participants treated with a 0.3 mg dose of Lucentis and 33.8 percent of participants treated with a 0.5 mg dose. A colorectal-cancer drug called Avastin a drug similar to Lucentis has been used offlabel by some ophthalmologists to treat wet AMD. The NEI completed a large-scale, two-year SUMMER 2014

9 Age-Related Macular Degeneration clinical study comparing Avastin and Lucentis. Results of the study showed that the drugs were similar in safety and efficacy. Vision-Enhancing Implantable Telescope The FDA has approved the use of an implantable miniature telescope (IMT) for enhancing the central vision of people with end-stage, untreatable age-related macular degeneration (AMD). The IMT provides improved central and detailed vision by focusing and magnifying images onto the functional, outer regions of the recipient s retina. People with advanced AMD normally experience degeneration of the macula or central region of the retina. The IMT was developed by VisionCare Ophthalmic Technologies. Is AMD an inherited disease? Researchers have discovered that genetics can play a significant role in AMD risk. In 2005, three groups of researchers, including a team funded by the Foundation, discovered that a gene called Complement Factor H (CFH) is linked to at least 50 percent of all cases of AMD. Since that breakthrough, researchers have found several other genes linked to AMD. CFH and many of the other AMD genes are involved in the innate immune system, which fights off infection. Scientists believe that over activity of the innate immune system increases AMD risk. What are the other risk factors for AMD? Smoking is the single greatest modifiable risk factor for AMD. Diet, sunlight exposure, and hypertension may also be linked to AMD risk. Experts recommend a diet that is rich in fruits and vegetables for minimizing AMD risk. They also recommend that people protect their eyes from bright sunlight by wearing sunglasses and a wide-brimmed hat. For more information on AMD, refer to the Foundation publication: Age-Related Macular Degeneration Research and Treatments. SUMMER 2014

10 USHER SYNDROME What is Usher syndrome? Usher syndrome is an inherited condition characterized by progressive vision loss and hearing impairment. The vision loss is due to retinitis pigmentosa (RP), a degenerative condition of the retina, and usually appears during adolescence or early adulthood. Balance may also be affected in people with Usher syndrome. Symptoms and disease progression vary from person to person. There are three general categories of Usher syndrome. People with Usher syndrome type 1 (USH1) are usually born with severe hearing loss and experience problems with balance. The first signs of RP night blindness and loss of peripheral vision usually appear in early adolescence. In Usher syndrome type 2 (USH2), newborns have moderate to severe hearing impairment. Symptoms of RP typically start shortly after adolescence. Visual problems progress less rapidly than in Usher type 1, and hearing loss usually remains stable. A rarer, third type of Usher syndrome (USH3) was documented in Children with USH3 are usually born with good or only mild impairment of hearing. Their hearing and vision loss is progressive, starting around puberty. Balance may also be affected. Usher syndrome is further subdivide into types, based on the mutated gene causing the disease. For example, people with Usher syndrome type 1B have mutations in the MY07A gene. Hearing loss in Usher syndrome is due to a genetic mutation affecting nerve cells in the cochlea, a sound-transmitting structure of the inner ear. The same genetic SUMMER 2014

11 Usher Syndrome defect also adversely affects photoreceptor cells in the retina, leading to vision loss. The retina is a thin layer of tissue lining the back of the eye composed of light-sensing photoreceptor cells. These cells also known as rods and cones are responsible for converting light into electrical signals that the brain interprets as vision. How is Usher syndrome inherited? Usher syndrome is passed from parents to their offspring through an autosomal recessive inheritance pattern. In this type of inheritance, two copies of a mutated gene, one from each parent, are required for the child to be affected. A person with only one copy of the gene is a carrier and rarely has any symptoms. Researchers estimate that as many as 50,000 people in the U.S. have Usher syndrome. Worldwide, it is the leading cause of combined deafness and blindness. Approximately 30 percent of people with RP report some degree of hearing loss, and about half of them are diagnosed with Usher syndrome. Genetic testing is available to help people define their condition and the risk of other family members or future offspring being affected. A genetic diagnosis can also help a person qualify for a clinical trial. Genetic counselors are excellent resources for discussing inheritability, family planning, genetic testing and other related issues. What treatments are available? While there are no treatments for Usher syndrome, intensive research is underway to discover the causes of, and treatments for, all types of the disease. In addition to nutritional therapies, researchers are working toward a variety of potential treatments for Usher syndrome, including gene therapies, stem cell treatments, and drugs. For more information on research and clinical trials for Usher SUMMER 2014

12 Usher Syndrome syndrome, refer to the Foundation publication Usher Syndrome: Research Advances. Are there any related diseases? Other conditions, some of which are also inherited, can result in deafness and deaf-blindness, but are not related to Usher syndrome. However, the RP associated with Usher syndrome shares most of its characteristics with other forms of RP. Researchers expect that advances in understanding and treating other forms of RP will directly benefit people with Usher syndrome, and vice versa. Extensive information on research and clinical trials for Usher syndrome, as well as low vision resources, are available at SUMMER 2014

13 FFB RESEARCH MILESTONES 1971 The Retinitis Pigmentosa Foundation is founded, which later would become the Foundation Fighting Blindness The first Foundation-funded research center is established the Berman-Gund Laboratory at Harvard University The first scientific workshop on retinal degenerative diseases is held The Foundation funds five research centers The Foundation funds eleven research centers The first success of retinal cell transplantation in animals is achieved The first retinitis pigmentosa (RP) gene is identified Vitamin A is shown to slow vision loss in RP The Retinitis Pigmentosa Foundation s name is changed to the Foundation Fighting Blindness. The first successful gene therapy is performed in animal models The first Stargardt disease gene (ABCR) is identified The Usher 2A gene is identified An artificial retina is implanted in humans. Gene therapy restores vision in 1 SUMMER 2014

14 FFB RESEARCH MILESTONES dogs with Leber congenital amaurosis (LCA) More than 100 genes are known to cause retinal degenerative diseases Encapsulated Cell Technology (ECT) delivers CNTF (protein) to preserve vision in animals with RP Phase I human clinical trial for ECT- CNTF therapy to treat RP begins Researchers develop an Usher 1C animal model. FFB creates the National Neurovision Research Institute (NNRI) to accelerate advancement of treatments into clinical trials The CFH gene is implicated in 50 percent of age-related macular degeneration (AMD) cases Researchers turn stem cells into retinal cells. Researchers use gene therapy to successfully treat Usher 1B in animal models. Lucentis is approved by the FDA for wet AMD, halting vision loss in 90 percent of patients who are treated. Phase II/III clinical trials of ECT-CNTF to treat RP begin Phase I clinical trials of gene therapy for LCA begin. Nanoparticles show promise for delivering healthy genes to the retina. Phase II human clinical trial of DHA begins for X-linked RP More than 140 genes are linked to retinal degenerative diseases. Young adults who were nearly blind from LCA gain some vision in Phase I gene therapy clinical trials. Gene therapy is successful in treating achromatopsia in animal models. 2 SUMMER 2014

15 FFB RESEARCH MILESTONES The Foundation establishes a partnership with Genable to develop gene therapy for dominant RP Neurotech capsule stabilizes vision in people with dry AMD. The Foundation partners with AGTC to develop gene therapies for retinoschisis and achromatopsia. Researchers develop retinal cells from skin cells. Twenty-five people who were nearly blind experience some vision restoration in three Phase I clinical trials of gene therapy for LCA. The Foundation establishes the National Eye Evaluation and Research network to launch clinical trials for promising treatments and cures Researchers use cell-based treatment to preserve vision in Usher 2A animal model. Researchers plan launch of clinical trial of rod derived cone viability factor, a therapeutic protein for people with RP The Foundation launches valproic acid clinical trial for people with autosomal dominant RP. ACT begins clinical trials of stem cell treatment for Stargardt disease and dry AMD. Oxford BioMedica s Stargardt disease gene therapy moves into clinical trial. First patient treated in clinical trial of gene therapy for choroideremia. Second Sight receives regulatory approval to market artificial retina in Europe. Clinical trial of gene therapy for recessive RP (MERTK mutation) begins Oxford BioMedica s Usher syndrome gene therapy moves into clinical trial. QLT s retinoid replacement therapy improves vision in clinical trial for 3 SUMMER 2014

16 FFB RESEARCH MILESTONES people with RP and LCA caused by LRAT and RPE65 mutations. Second eyes treated successfully in LCA gene therapy clinical trial at The Children s Hospital of Philadelphia. ACT stem cell clinical trial reports two patients demonstrated improved vision VisionWalk raises almost $31 million to fund sight-saving research. Second Sight receives approval from the Food and Drug Administration (FDA) to market the Argus II retinal prosthesis. Foundation launches ProgSTAR, a natural history for Stargardt disease. Gene therapy successful in canine model of Best disease Choroideremia gene therapy improves vision in human study. Therapy developed by StemCells, Inc. slows dry AMD in human study. FFB launches My Retina Tracker, an online retinal-disease patient registry. LCA gene therapy moves into Phase III clinical trial at the Children s Hospital of Philadelphia and University of Iowa. The Foundation has given hope to people who didn t previously have hope, and supported the most important retinal research. Morton F. Goldberg, M.D. Wilmer Eye Institute Johns Hopkins Hospital 4 SUMMER 2014

17 The Foundation Fighting Blindness: Where Does the Money Go? Since 1971, the Foundation has raised nearly $600 million. Throughout our history, we have maintained an extraordinary commitment to directing as much revenue as possible for research to overcome the entire spectrum of retinal degenerative diseases, including retinitis pigmentosa, age-related macular degeneration, Stargardt disease and Usher syndrome. More than $440 million in revenue has been directly invested in research and public health education programs, with nearly $400 million going toward retinal research and close to $50 million going toward public health education. Revenue Allocation $400,000,000 $392,659,125 $350,000,000 $300,000,000 $250,000,000 $200,000,000 $48,774,700 $101,965,642 $150,000,000 $100,000,000 $36,665,436 $50,000,000 $0 Function Research Public health education Management & general Fundraising

18 Fiscal Year 2015 More funds are being invested in treatments and cures in fiscal year 2015, thanks to accelerated progress in clinical and translational research. Approximately 70 percent of our revenue budget for fiscal year 2015 is dedicated to research and public awareness, maintaining our historically high average investment in these key program areas. Fundraising 23% M&G 7% Public Awareness 7% Research Including Grants 63% FFB Leverage Throughout our history, the Foundation has also stimulated additional funding from other sources through targeted research grants and awards. This additional leverage is not reflected in our financial statements, but clearly adds to the overall research effort. For example, the Foundation has provided $2.8 million in research funding to gene therapy pioneer Jean Bennett, M.D., Ph.D. Thanks, in-part, to the success of her clinical trial of a visionrestoring treatment, the biopharmaceutical company Spark Therapeutics was formed and has received more than $122 million in investments to move life-changing and vision-saving therapies into the marketplace. Since the late 1990s, the Foundation Fighting Blindness has given more than $1.2 million to Rando Allikmets, Ph.D., at Columbia University, for research to better understand Stargardt disease and develop a gene therapy to halt vision loss from it. Today, the multibillion-dollar pharmaceutical company Sanofi is leading a clinical trial of the promising Stargardt disease gene therapy originally developed by Dr. Allikmets.

19 At the Foundation, we are extremely proud of how far our work has moved the field of retinal degenerative disease research. When we began, more than 40 years ago, there was virtually no research, and people who were losing or had lost their sight to retinal diseases had no hope, and no place to turn. Now, as we enter Phase I and Phase II clinical trials for many new treatments, we can look back on the strategy of immediate and sustained investment as being a sound one. What Makes FFB Unique FFB is somewhat different from other nonprofit organizations. Quite literally, we are in business to go out of business. That is, if we were to find cures for all retinal degenerative diseases next week, we would close our doors and turn off the lights. This sense of urgency drives the organization from top to bottom. The organization itself is a means to an end: eradication of retinal degenerative diseases. As such, we do not have a large endowment. Our donors want their money put to work immediately to shrink the timelines for the development of preventions, treatments and cures. We focus on this goal relentlessly. The Foundation is an accredited charity with the Better Business Bureau Wise Giving Alliance, meeting all 20 standards. The Foundation is also a valued partner in the Guidestar Exchange Partners in Trust Program.

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33 A fundraiser for the Foundation Fighting Blindness The POP Eyes Program Through POP Eyes, local and national businesses have the special opportunity to participate in a good-will fundraising initiative driven by the generosity of their customers. You may have seen programs similar to POP Eyes like the Juvenile Diabetes Research Foundation sneakers or the Children s Miracle Network hot air balloons in retail stores. In line with this concept, store cashiers ask customers at the point of purchase to support the Foundation Fighting Blindness in their mission to save and restore sight by purchasing a paper POP Eye for $1.00 or more. This donation is added to the customer s final bill. Customers then sign his/her name on the paper POP Eye and they are proudly displayed and hung in a prominent location(s) throughout the store. This fun, easy and profitable promotion typically runs for a four week period and has effectively raised millions of dollars for charities across the country. Support your community s local Foundation Fighting Blindness event and help us in our quest for a cure of retinal degenerative diseases; participate in POP Eyes today! How do companies and stores benefit from POP Eyes? POP Eyes can be used to build a strong team, enhance employee morale and contribute to they company's support of local non-profit efforts. Customers will feel good about patronizing a store that gives back to its community. Increase public relations. Experience shows customers are excited and enthusiastic to support the program. Once the POP Eyes begin to "take-over" your store s walls, its time to alert the local media! POP Eye sales are a great way to build company visibility throughout the community. Best of all, you can raise a substantial amount of money for retinal degenerative diseases at no financial cost to the store! Over ten million Americans of every age and race suffer vision loss from these blinding diseases. Chances are that many of your customers and employees have had their families touched by retinal degenerative diseases in some way. Of course, the best reason for participating in this promotion is the satisfaction companies and their employees will have in knowing dollars raised will help find more effective treatments for retinal degenerative diseases, and someday, a cure. Yes, I Would Like To Participate! Please contact Kensi Mangum at KMangum@FightBlindness.org or (919) to bring POP Eyes to your area and receive POP Eyes Promotional Packets for prospect stores.