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For Rare Disease Day – The Many Benefits of Genetic Research

Rare Disease Day logoIt’s apropos that Rare Disease Day 2016 will be held on the rarest day on the calendar—Leap Day, February 29.

However, collectively, rare diseases are not uncommon. About 30 million Americans, nearly 10 percent of our population, are affected by one of 7,000 rare diseases. They’re an important public health issue, making it incumbent upon us to work hard to eradicate them.

For those of you with a connection to the Foundation Fighting Blindness, you likely know the myriad challenges of progressive vision loss from a rare, blinding retinal disease and why it’s so important to find a treatment or cure for the condition.

In the quest for therapies for rare diseases, including those that affect the retina, we are at an exciting scientific juncture. That’s largely because of our greatly expanded knowledge of genetics. We are getting very good at finding disease-causing genes, understanding their functions and developing methods for replacing and correcting them when defective.

Genetic research is important for rare diseases because approximately 80 percent are genetic, and nearly all rare, inherited retinal conditions are caused by mutations in a single gene. Once the mutated gene associated with a disease is identified, researchers have a clear target for a therapy.

Thanks, in large part, to the Foundation’s commitment to genetic research, we now have gene therapies in human studies for choroideremia, Usher syndrome type 1B, Stargardt disease, retinoschisis and Leber congenital amaurosis (LCA). There’s even a clinical trial of an optogenetic therapy that holds promise for restoring vision in people who are completely blind, regardless of their gene mutation.

Most exciting, Spark Therapeutics is seeking approval from the U.S. Food and Drug Administration (FDA) for its vision-restoring, RPE65 gene therapy for certain forms of LCA and RP. It could become the first gene therapy ever approved by the FDA for the eye or an inherited condition, providing affirmation to companies and researchers around the world that gene therapy is a viable way to overcome inherited diseases.

The Foundation’s commitment to genetic research is stronger than ever. We currently fund about 30 gene-therapy projects, including those for Best disease, X-linked RP, autosomal dominant retinitis pigmentosa and several forms of Usher syndrome and LCA. In addition, we support several gene-discovery efforts to find the remaining genes associated with retinal diseases.

If you have a rare, inherited retinal disease, now is the time to stand up and be counted. Sign up on My Retina Tracker®, the Foundation’s free, secure and confidential patient registry. Researchers and companies worldwide are using the registry to study and analyze patients’ disease information and identify candidates for clinical trials.


9 Responses to 'For Rare Disease Day – The Many Benefits of Genetic Research'

  1. ashim says:

    Hi Dr,

    My mom has retinitis pigmentosa from the last few years.She has very less vision left now.She cannot see in the night or when its dark..However she can read and see things with difficulty.I would say she has 50% vision left now.She is of 58 years and she started loosing her eye sight 10 years back.

    Can you help or suggest me if this new RPE 65 gene therapy can cure her disease.?

    Thanks

    • EyeOnTheCure says:

      RPE-65 gene therapy is available only for individuals with mutations in RPE-65 gene. Do you know if your mother has mutations in the RPE-65 gene? If not, she should consider genetic testing to try and identify the mutant gene responsible for causing her RP. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Whether her disease gene is identified or not, she should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information.

  2. kannan says:

    Hi Dr,

    I am kannan murugesan from India. Our family is affected inherited retinal eye disorder. My MOM losed her 100 % vision ( Age 60) and two of my brothers lost their vision about 70% ( Age 54 and 53).

    Can you help or suggest me if this new RPE 65 gene therapy can cure the disease.Also any treatment is available in India?. Please guide us.

  3. Anna says:

    suggest me if there is new gene therapy that can cure the rare eye disease.

    • EyeOnTheCure says:

      Most gene therapy treatments are specific for a single gene that is mutated. You should therefore consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information.

  4. shohreh says:

    Hi dr
    I’m 32 live in dallas texas my eye problem is stargardts please please let me know if you can guide me

    • EyeOnTheCure says:

      Shohreh, you will be pleased to know that the Foundation Fighting Blindness is partnering with Sanofi Pharmaceuticals on a gene therapy clinical trial for Stargardt disease. For more information on this trial, see the following link:
      http://clinicaltrials.gov/ct2/show/NCT01367444?term=stargardt&recr=Open&no_unk=Y&rank=2 In order to participate in this or any other gene therapy trial, you must first obtain a molecular (genetic) diagnosis. For information on genetic testing, please see the following web link to download a PDF document: http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      You should also consider enrolling in “My Retina Tracker”, a free registry that helps link people with retinal disease to appropriate clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/

      Of general interest, there is a “Stargardt – Macular Degeneration” Facebook page where people can communicate with other people affected by Stargardt disease. Here is the link: https://www.facebook.com/groups/Stargardts/

      Finally, below is a list of pharmaceutical companies that are developing therapies for Stargardt Disease:

      Acucela,( http://www.acucela.com/) is a Seattle-based biotechnology company that is developing several drugs for retinal diseases such as AMD, dry eye, diabetic retinopathy, retinopathy of prematurity and Stargardt disease. Acucela’s visual cycle modulators (VCM) reduce the activity of the rod visual system — in essence, “slowing it down” and reducing the metabolic load on the retina. Reducing the speed of the visual cycle has been shown to protect the retina from light damage and reduce the accumulation of retinal-related toxic by-products, including A2E, which is implicated in both Stargardt disease and dry AMD. The Company’s lead investigational compound (Emixustat™) is currently in Phase 3 trials for dry AMD. Once approved by the FDA, Emixustat could be prescribed for Stargardt disease.

      Ocata Therapeutics (https://www.ocata.com/), a Santa Monica-based biotechnology company, has developed an RPE cell line that is derived from embryonic stem cells (ESC). Studies have shown that the subretinal transplantation of ESC-RPE cells in a rat RP model resulted in 100% visual function rescue. Functional rescue was also achieved in the Stargardt mouse model with near-normal functional measurements recorded at more than 70 days. The RPE cell transplantation studies are now in Phase 2 human clinicals. Here is the link to the Clinical Trials.Gov recruitment web page: http://www.clinicaltrials.gov/ct2/show/NCT01469832?term=advanced+cell+technology&rank=2
      *Note: It is not known how long the transplanted RPE cells will last in a human patient with Stargardt disease. Unless gene or pharmaceutical-based augmentation treatment is coupled to the RPE transplant, toxic A2E will continue to be produced and eventually kill the RPE cells.

      Alkeus, (http://alkeus.com/) Alkeus has developed a form of vitamin A that upon light interaction, does not form toxic vitamin A metabolites and A2E. Alkeus’ lead compound, ALK-001, is an oral compound with a well-understood mechanism of action. ALK-001 was specifically designed to treat Stargardt disease by preventing the formation of these toxic vitamin A dimers in the eye. Alkeus is currently recruiting patients for a Phase 2 human clinical trial. Here is the link to the clinical trials.gov recruitment page: https://www.clinicaltrials.gov/ct2/show/NCT02402660

      Vision Medicine (Previously Visum) The Foundation Fighting Blindness is partnering with Vision Medicine to develop a small molecule therapy Stargardt disease. Vision Medicine’s novel approach proposes to develop drugs that will temporarily control levels of A2E in the eye and preserve the natural vision cycle, leading to a therapeutic treatment. Vision Medicine has discovered a unique chemical approach to sequester rather than eliminate A2E. Through this process, 25 diverse FDA approved drugs demonstrating both mechanistic and in vivo efficacy have been identified. Vision Medicine has identified a lead compound, VM 200, which is an enantiomer of an FDA approved drug that demonstrates complete retinal protection in preclinical studies. Vision Medicine plans to conduct Phase I and Phase II clinical trials in the near future.

      To read more about the partnership between Vision Medicine and FFB, see the following web link:
      http://www.blindness.org/foundation-news/foundation-fighting-blindness-partners-vision-medicines-develop-stargardt-disease

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