Spinal Muscular Atrophy (SMA)

SMA: Repligen Launches Phase 1b Trial of RG3039

The experimental drug RG3039, being developed by Repligen Corp. of Waltham, Mass., as a potential treatment for spinal muscular atrophy (SMA), has moved into its next phase of testing.

RG3039 previously was tested in a phase 1a trial, in which healthy adult volunteers received a single dose of the drug. Now, in a phase 1b trial, healthy volunteers will receive multiple doses of the drug.

NINDS Launches Clinical Trial Network, SMA Biomarkers Study

Update (March 28, 2013): This story was updated with a link to the ClinicalTrials.gov site for this study.

MDA Applauds Congress for Including Two Neuromuscular Diseases in Pediatric Research Bill

In July, days before the U.S. House of Representatives and Senate went into recess, bipartisan legislation was introduced in both houses to strengthen research into pediatric diseases.

Survey Examines Newborn Screening for Neuromuscular Disease

MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.

SMA — John Manfredi

MDA awarded a grant totaling $79,277 to John Manfredi, chief scientific officer at Sfida BioLogic Inc., in Salt Lake City, Utah, for continued research into new drug compounds that promote the growth and function of motor neurons (nerve cells), and that may have potential as therapeutics for treatment of spinal muscular atrophy (SMA).

SMA — Claudio Sette, Ph.D.

MDA has awarded a research grant totaling $219,000 over three years to Claudio Sette, associate professor for the department of public health and cell biology at the University of Rome Tor Vergata in Rome, Italy. The new funds will help support Sette’s study of the molecular mechanisms underlying spinal muscular atrophy (SMA).

SMA — Lisa Baumbach, Ph.D.

MDA has awarded a research grant totaling $387,228 over three years to Lisa Baumbach, associate professor in the departments of neurology, pediatrics and biochemistry at the Miller School of Medicine at the University of Miami. The funds will help Baumbach continue to search for disease-causing genes responsible for infantile (either X-linked or type 1) spinal muscular atrophy (SMA).

SMA Research Briefs: New Gene ID'd, Disease Modifier Explored

Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells (motor neurons) that control muscles in the spinal cord die, causing progressive weakness in the voluntary muscles.   

Decision Making About PGD Is Complex, Study Finds

Decision making about preimplantation genetic diagnosis (PGD) is a complex, multiphase process for couples, a new study has found. Understanding it, the investigators say, may be helpful to prospective parents who know they're at risk for transmitting a genetic disorder, and to the professionals who advise them.

SMA: RG3039 Proves Safe in Phase 1 Trial

Update (June 21, 2012):This story was updated to include the fact that MDA funding helped support the phase 1 trial, as well as the preclinical development of RG3039.