Muscular Dystrophy Association

SMA Added to National List of Disorders to Screen for at Birth

After significant collaborative work among many stakeholders in the spinal muscular atrophy (SMA) community, we are pleased to share that the Secretary of Health and Human Services, Dr. Alex Azar, has accepted the recommendation to add SMA to the Recommended Uniform Screening Panel for newborns. This is a landmark decision for the SMA community.

This week, Sarepta Therapeutics announced encouraging preliminary results from a phase 1/2a gene therapy trial designed to assess the investigational drug AAVrh74.MHCK7.micro-Dystrophin in boys with Duchenne muscular dystrophy (DMD). After 90 days in the trial, the first three participants all showed robust expression of micro-dystrophin a shortened version of the protein that is absent in the muscle of those with DMD.

MDA National Ambassador Justin aspires to become a researcher and is preparing now to head to college and major in bioinformatics and computational biology. Check out the story he wrote to share a few thoughts on his next exciting chapter.

In the 25 years since her husbands diagnosis, Karen has seen a lot of progress on the ALS front. She is optimistic about where research is headed but still remembers what it was like for Mike to receive his life-changing news...

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Muscular Dystrophy Association