William S. Lowery MD has LGMD1D and so does his adult daughter. Together they co-chair the LGMD-1D DNAJB6 Foundation. Originally focused on LGMD1D but now dedicated to helping all patients with rare dominant muscle disease.
Keep in mind, DNAJB6 is often classified as MFM and/or LGMD.
William feels, as we do, that dominant forms, being much less frequent, do not get the publicity nor the attention that the recessives do. The patient registry that he built and maintains for 1D has been expanded for all LGMD 1’s and all MFMs.
According to Dr. Lowery (he prefers “William”), 15 patients with a mutation is now enough for The FDA to fast-track clinical trials. And he has networked himself with myriad labs and facilities doing work on dominant mutations. His registry is made available to all of these.
He is now accepting everyone with an autosomal dominant muscular dystrophy, including MFM patients, in his registry. Each, in turn, will be sub-grouped according to mutation. This fully HIPAA compliant registry would be available to researchers who are looking for dominant patients. William constantly searches for projects and trials and lets these researchers know the patients and the registry exists. In turn, he would let the registry members know of upcoming trials. Again, this registry is super secure. William is the only person at the Foundation that can see the names. Legitimate researchers will see the data, at which point subgroups of patients will be offered an opportunity to participate in trials, etc.
Register if you know your variant.
Genetic Testing
MYOSYND™
Your Myopathy Syndicate, Medical Action Committee and Autosomal Dominant Muscular Dystrophy Registry.
The LGMD1D DNAJB6 Foundation and The Myofibrillar Myopathy (MFM) Group are embarking on a broad mission to include as many autosomal dominant and X linked myopathies and their subset, muscular dystrophies, in a group or syndicate for our common good. Genetic therapies for our distinct genetic problem are a common denominator for approaches like CRISPR editing and RNA blocking techniques. We share the same path forward.
Our goal as a syndicate will be political and medical. We encourage all patients, caregivers, friends and interested activists to join. You must be over 18 years old to join or guardian approval. Join MYOSYND here.
Connect & Support
We have a supportive community on Facebook for those who have MFM, those who care for someone with MFM, or those who research and treat the disease.
It's a private group whose members value your story and can relate.
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