An expression of the live unlimited spirit, stories and voices of the MDA community
Researchers at Russell Sage College are seeking parents or legal guardians of individuals with spinal muscular atrophy (SMA) to participate in a survey about the communication abilities of the affected individuals. Analysis of the current communicative behaviors used by individuals with SMA will help researchers develop communication systems that better address the needs of this population. . . .
Researchers at Rare Disease Research, LLC are seeking boys between the ages of 7-years-old and 13-years-old who are living with Duchenne muscular dystrophy (DMD) to participate in the phase 3 MIS51ON trial to evaluate the safety and efficacy of high dose eteplirsen (brand name Exondys 51) to treat DMD. Eteplirsen is designed to promote production of . . .
Researchers at Rare Disease Research, LLC are seeking boys between the ages of 6 months and 2 years who are living with Duchenne muscular dystrophy caused by a nonsense mutation (nmDMD) to participate in a phase 2 clinical trial to evaluate the safety and duration of effect of ataluren (brand name Translarna) to treat nmDMD. Ataluren . . .
Like many middle-school kids, 11-year-old Callen, of Emmaus, Pennsylvania, has turned his mom, Jamie Moulthrop, into a chauffeur, she jokes. He participates in karate, baseball, hockey, and surfing, and he meets up often with friends at the pool and splashes around for hours. Unlike the other kids around him, though, Callen has Charcot-Marie-Tooth disease (CMT), a . . .
With age often comes the maturity and grace to accept the world and oneself. That’s a good thing, because it takes every bit of that maturity to differentiate the aging process from the progression of a neuromuscular disease. Neuromuscular disease comes with certain physical limitations that can also look like aging — loss of strength, . . .
Researchers at the Icahn School of Medicine at Mount Sinai are seeking disability advocates to participate in a survey about the current state of genetic counseling for the disability community. The goal of this survey is to help understand gaps in knowledge among genetic counselors regarding life with disability and to evaluate educational opportunities, such as . . .
Researchers at Cumberland Pharmaceuticals Inc. are seeking boys and men living with Duchenne muscular dystrophy (DMD) to participate in a phase 2 clinical trial to evaluate the safety, efficacy, and duration of effect of oral ifetroban to treat heart disease associated with DMD. Ifetroban is designed to reduce fibrosis and fat deposition in the heart and . . .
Researchers at Astellas Pharma Inc. are seeking individuals living with primary mitochondrial myopathy (PMM) to participate in a phase 2/3 clinical trial and open-label extension to evaluate safety, tolerability and preliminary efficacy of the investigational drug ASP0367 (MA-0211) to treat PMM. ASP0367 is being investigated regarding whether it can increase the number and function of the . . .
On Aug. 6, the US Food and Drug Administration (FDA) granted accelerated marketing approval to avalglucosidase alfa (Nexviazyme) for the treatment of people 1 year of age and older living with late-onset Pompe disease. It is the second approved drug to treat Pompe disease. Nexviazyme will be made available in the US and marketed by Sanofi . . .
More than one-third of adults in the United States fail to get the seven to nine hours of sleep they need, reports the National Sleep Foundation. Children and teens require even more sleep, which too many also miss out on. Getting quality sleep can be challenging for people with neuromuscular disorders. However, with the right . . .
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