Research updates and clinical trials information
What About My Disease?
Readers sometimes wonder what’s happening with research for their diseases when they don’t see news about them for a while in the pages of Quest. But keep in mind: Research that seems to be for one disorder often has spillover implications for others.
Geneticist R. Rodney Howell, chairman of MDA's Board of Directors, testified before a U.S. Senate subcommittee Sept. 26 to support continued funding for newborn screening
R. Rodney Howell, a pediatrician and medical geneticist who chairs MDA's Board of Directors, advocated for passage of the Newborn Screening Saves Lives Reauthorization Act of 2013 (S. 1417) before a U.S. Senate subcommittee on Thursday, Sept. 26.
Howell emphasized that
The biopharmaceutical company will provide first-step Pompe testing (measuring GAA levels in blood) if an MDA clinic physician suspects the disorder
Pompe disease (acid maltase deficiency, or GAA deficiency) shares symptoms with several other disorders and, in the absence of specific testing, can sometimes be confused with these other conditions.
Disease registries are seeking participants with CMD, FSHD, LGMD, MMD and Pompe disease
FSHD, MMD: Registry remains open
The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.
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.
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...
Drug testing for Duchenne MD, Leigh syndrome and Pompe disease moves forward; and two MDA-supported mouse studies suggest leads for myasthenia gravis and periodic paralysis
Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.