Jim Rusche from Repligen Corp. announced encouraging interim results from a phase 1 clinical trial of RG2833 in Friedreich's ataxia
Interim results from a phase 1 clinical trial of RG2833 in people with Friedreich’s ataxia (FA) show that the experimental drug is well-tolerated, and that it appears to increase the activity of the gene for the frataxin protein.
Federal committee votes to add the enzyme deficiency disorder to the list of recommended conditions for which states screen newborns
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.
PTC Therapeutics' large-scale multinational trial of ataluren for nonsense-mutation Duchenne or Becker MD has opened its first site in Cincinnati, Ohio
A large-scale, multinational, phase 3 trial of the experimental drug ataluren has opened its first trial site, in Cincinnati, Ohio.
Isis Pharmaceuticals has launched a phase 2 trial to test its experimental antisense drug ISIS-SMNRx in infants with spinal muscular atrophy
A phase 2 clinical trial to test multiple doses of the experimental drug ISIS-SMNRx in infants with spinal muscular atrophy (SMA) has opened at four trial sites in the United States and Canada. Enrollment is expected to begin soon.
Researchers conducting a study of medical changes and complications in myotubular myopathy (MTM) are seeking individuals with MTM or their parents for 12 monthly phone interviews
The Myotubular Myopathy Event Study, a telephone-based survey, will gather information about MTM-associated events, such as emergency room visits, hospitalizations, medication reactions, and complications from medical procedures, as well as improved or declined motor and respiratory function.
In early 2011, clinical trials of ACE-031, a myostatin inhibitor, were halted pending resolution of safety issues; in May 2013, the developers discontinued work on the drug
The rapid pace of research, unprecedented number of treatments in clinical trials and opportunities to share ideas across diseases made for an exciting 2013 MDA Scientific Conference
Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.
A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in...