We are a patient-led non-profit organization with the mission to find a cure for ADSS(L)1 Myopathy, a rare neuromuscular disease caused by an inborn error of purine metabolism due to mutation in the ADSS(L)1 gene. Our dedication for finding a cure stems from a personal place, as both our son and daughter have been diagnosed with this devastating disease.
ADSS(L)1 Myopathy is a rare genetic disorder that causes muscular weakness right from birth and onset of rapid progression as affected individuals enter their teen years. The impact of this disease is devastating, causing failure in muscle function over time, leading to loss in mobility in the arms and legs. It also has grave impact on lungs and heart function. As there are less than 200 known patients worldwide, this disease falls below the “profitability margin” for any pharmaceutical company to pursue a cure.
There is good reason to be hopeful because of exciting advancements in gene-therapy. Scientists believe that a gene replacement based treatment is possible for this disease. Without the support of pharmaceutical companies, we as parents are taking it upon ourselves to directly support and fund researchers in developing a cure.
We believe that the learnings from this research and the approach for therapeutic development taken by our organization will benefit many others, like our children, who are affected by rare neuromuscular diseases. However, we can’t do it alone as it is expensive to fund the research. We really need the support of the community in giving affected individuals a chance at living fulfilling lives.
If you or any of your family members are affected by ADSS(L)1 myopathy, please register here.