At MDA, we believe in the power of research and the importance of building relationships among families, clinicians, and the scientists making discoveries to advance treatments and therapies. We invite individuals living with myasthenia gravis (MG), as well as caregivers and loved ones, to attend the MDA Engage MG Symposium taking place on Nov. 2 . . .
Even though the Martinez family lives in Burbank, Calif., within an hour’s drive to Los Angeles’ Cedars-Sinai Medical Center, their road to the hospital’s specialized clinics — to Dr. Robert Baloh and his work there — was a long one. Daniel and Gladis Martinez have two daughters: Genesis, 15, and Isabella, 14, born just 10 . . .
Martin Childers, PhD, DO, chief medical officer at Asklepios BioPharmaceutical Inc. in North Carolina, was awarded an MDA research grant totaling $192,500 over one year to perform pre-clinical studies using an adeno-associated virus (AAV) to deliver a gene therapy for limb-girdle muscular dystrophy type 2I (LGMD2I). Limb-girdle muscular dystrophies are a diverse group of disorders . . .
Michael Shy, PhD, professor of Neurology and Pediatrics at the University of Iowa, was awarded an MDA Clinical Research Network Grant (CRNG) totaling $423,413 over three years to further develop the Inherited Neuropathies Consortium (INC), a network of clinical investigators dedicated to developing the infrastructure necessary to evaluate therapies for patients with inherited peripheral neuropathies, . . .
This week, Santhera released a letter to the Duchenne muscular dystrophy (DMD) community regarding an update on Santhera’s DMD drug development programs and its partnership with ReveraGen. The full letter follows. Letter to the DMD community from Santhera: Dear Duchenne community, It was great to connect with so many of you at the Parent Project . . .
Sanjay Bidichandani, MBBS, PhD, professor of Pediatrics at the University of Oklahoma Health Sciences Center, has an ongoing MDA research grant (totaling $300,000 over three years) to study the role of epigenetic silencing of the frataxin gene (FXN) in Friedreich’s ataxia (FA). (Epigenetic changes to the genome are factors that influence the activity of genes . . .
Researchers at Italfarmaco are looking for participants with Duchenne muscular dystrophy (DMD) to participate in a phase 3 study. The goal of the study is to evaluate the efficacy and safety of givinostat, a drug that belongs to a class called HDAC inhibitors and is believed to induce the muscle repair process, which may prevent . . .
Receiving a diagnosis of a neuromuscular disease is often not easy — there can be denial, anger, grief, and a frustrating sense that maybe life is, in a way, over. For Wolfgang Pernice, PhD, however, being diagnosed with Charcot Marie Tooth disease (CMT) in his early teens didn’t bother him that much. He says his . . .
Dr. Perry Mansfield at the SENTA Clinic in San Diego, Calif., is looking for healthy individuals and patients with neuromuscular disease who have documented neurologic pharyngeal muscle dysfunction (dysfunction of the voluntary muscles that form the pharynx) to participate in a pilot study. This study will help to prove the diagnostic consistency of transmembrane electromyography . . .
Carlos T. Moraes, PhD, professor of Neurology at the University of Miami’s Miller School of Medicine in Florida, has an ongoing MDA research grant (totaling $300,000 over three years) to develop gene-editing enzymes that can be used to correct genetic mutations causing mitochondrial myopathies. Mitochondrial diseases caused by mutations in the mitochondrial DNA (mtDNA) are most . . .