GENE THERAPY RESEARCH
What's happening now...
Gene therapy research for SMARD is in progress, but we need YOUR help to raise approximately $5 million to keep the research moving forward. Gene therapy aims to replace or correct the faulty IGHMBP2 gene and is a well-documented treatment for this disease in animal models. The plan is to translate this promising data into human clinical trial as early as 2021! The best way to get these children treatment as soon as possible is to raise the necessary funds immediately.
In less than a year and in partnership with smashSMARD Germany, we have raised around $2 Million. The funds raised to date are supporting preclinical research, but more funding is needed to ensure 6-12 patients with IGHMBP2 disorders will receive gene therapy treatment by way of a clinical trial as early as 2021!
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What's been done before...
A gene therapy clinical trial was conducted for SMA Type 1 at Nationwide Children's Hospital in 2014. Though SMARD involves a different gene mutation, both are nuerodegenerative genetic diseases. As in SMARD, infants with SMA type 1 generally have symptoms that include hypotonia (weak muscle tone, especially in the arms and legs), and difficulty moving, eating, breathing, and swallowing. Infants are unable to raise their head or sit unaided. All 15 babies treated for SMA1 in the clinical trial, expected to die by age 2, were alive at 20 months or older, and most could sit up, according to a report in The New England Journal of Medicine (NEJM). We are hopeful that a SMARD clinical trial will produce encouraging results as well! These beautiful faces, as well as those not yet diagnosed, deserve a shot at a treatment.