When Stephanie and Wayne Donato received the diagnosis of Duchenne muscular dystrophy (DMD) for their son Maximus, who was 4 at the time, in 2017, “we were completely blindsided,” Stephanie says. The couple quickly realized there were a lot of people they needed to tell, and they started with their own family. The Donatos also . . .
When the COVID-19 pandemic emerged in March 2020, Matthew Lawson’s employer — like many others around the country — temporarily closed its doors and had team members go remote to prevent spread of the virus. Matthew, an IT manager for Abilities in Motion in Reading, Pennyslvania, soon realized that working from home would not be . . .
It can be overwhelming for educators to learn the various challenges associated with neuromuscular diseases and to take those considerations into the classroom. The good news is that these students also come with their own unique set of deep strengths, and educators’ role in encouraging, supporting, and motivating them draws on many of the skills . . .
Researchers at Ohio State University are seeking adults living with Charcot-Marie-Tooth disease type 1 (CMT-1) and type 2 (CMT-2) to participate in a one-month observational study (CMT Establish). This study is designed to assess whether individuals with CMT-1 and CMT-2 exhibit altered communication between nerves and muscles, known as neuromuscular junction (NMJ) transmission, compared to healthy . . .
Researchers at Mitsubishi Tanabe Pharma Development America, Inc. (MTPA) are seeking adults living with amyotrophic lateral sclerosis (ALS) to participate in a phase 3b clinical trial to evaluate the safety and efficacy of oral edaravone to treat ALS. Edaravone (brand name Radicava) was designed to help protect cells from damage caused by free radicals, and was . . .
On September 24, Capricor Therapeutics announced positive results at the World Muscle Society Virtual Congress from its phase 2 HOPE-2 trial of the investigational therapy CAP-1002 for treatment of people in advanced stages of Duchenne muscular dystrophy (DMD). The primary and secondary endpoints of the study, the improvement of upper limb and cardiac function, were met, . . .
Broken wheelchairs. Inaccessible seating. Hard to navigate aircraft. For too many in the neuromuscular community, traveling by air is not accessible. We sat down with Paul Melmeyer, MDA’s VP of Public Policy and Advocacy to hear about his recent appointment to the Air Carrier Access Act Advisory Committee and the Association’s work on accessible air . . .
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 . . .