Metabolic Diseases of the Muscle

The biopharmaceutical company will provide first-step Pompe testing (measuring GAA levels in blood) if an MDA clinic physician suspects the disorder

posted on June 10, 2013 - 9:35am
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

posted on June 7, 2013 - 11:05am
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

posted on May 17, 2013 - 2:45pm
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.

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

posted on March 26, 2013 - 4:21pm
Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.

Proposals for implementation of widespread screening of newborn babies for Pompe disease and Duchenne muscular dystrophy were delivered to a federal advisory committee

posted on March 20, 2013 - 12:07pm
Update July 22, 2013: This story was updated to reflect that, in April 2013, the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) was chartered and now fulfills the functions previously undertaken by the Secretary's Advisory Commitee on Heritable Disorders in Newborns and Children (SACHDNC).

Disease registry seeks input from people with congenital muscular dystrophies, congenital myasthenic syndromes or other congenital muscle disorders, including those with no clear diagnosis

posted on March 12, 2013 - 12:41pm
An international patient registry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.

Amicus Therapeutics' experimental drug AT2220 has enhanced enzyme replacement therapy in a phase 2 trial in Pompe disease and is slated for further development

posted on February 15, 2013 - 4:29pm
The experimental drug AT2220 has shown benefit as an enhancer of enzyme replacement therapy for the metabolic muscle disorder Pompe disease (acid maltase deficiency). The drug, a pharmacological chaperone, is designed to:

Edison Pharmaceuticals has launched a phase 2b trial to test its small-molecule drug EPI-743 in adults with Friedreich's ataxia

posted on January 16, 2013 - 5:00am
Update (Dec.