Myopathy caused by ADSSL1 gene mutation was first discovered in 2016 in Korea. Being a newly identified ultra rare genetic disease there is no treatment currently available or on the horizon of any drug development company. Neuromuscular disease and gene therapy experts believe that ADSSL1 is ideal for gene replacement therapy because of its small size. It is small enough to fit into the Adeno-Associated Virus (AAV) vector, which will be used to deliver a healthy copy of the gene into the muscle cells.

A non profit organization Cure Rare Disease™ (CRD) started by Mr. Rich Horgan is developing customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatment or cures. We have partnered with CRD and Dr. Alan Beggs Lab at Boston Children Hospital (BCH) who are helping us develop the gene therapy for our kids and many others impacted with this genetic disease. Research work starting from Phase1 till Phase 3 will be led by Beggs Lab in collaboration with Cure Rare Disease. Phase 4 and Phase 5 will be performed with CRD. We seek your support for this effort by donating here.

Raising $3.5M to support the development of ADSSL1 gene therapy


Framework and approach developed in collaboration with: