Other Myopathies

A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.

MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases. 

MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the disease. The effective start date for all grants was July 1, 2010.

Duchenne muscular dystrophy

Acceleron Pharma announced Aug. 4 that it has received fast track designation from the U.S. Food and Drug Administration (FDA) for its experimental compound ACE031 for the treatment of Duchenne muscular dystrophy (DMD). ACE031 is designed to interfere with the actions of myostatin, a protein that inhibits muscle growth.

MDA-supported researchers at 4s3 Bioscience, a biotechnology company in Medford, Mass., are using a new molecular strategy to transport a potentially therapeutic protein into muscles, as an experimental treatment for X-linked myotubular myopathy (MTM), a genetic muscle disease that's generally fatal in infancy.

The treatment will be tested in a mouse model of MTM. These mice do not make myotubularin and display signs and symptoms similar to those in humans with X-linked MTM.

An MDA-supported, multinational team of researchers from Canada and Europe has identified specific mutations in the anoctamin 5 (ANO5) gene on chromosome 11 that can cause type 2L limb-girdle muscular dystrophy (LGMD2L) and type 3 Miyoshi myopathy.

The rare condition thyrotoxic hypokalemic periodic paralysis, or TPP, causes people with normal muscle strength to experience episodes of paralysis and weakness. Until recently, TPP was known to be associated with attacks of high thyroid hormone secretion (thyrotoxicosis), but new information shows that in some cases the condition also has a genetic component -- mutations in a newly identified potassium channel that helps control the flow of potassium ions into and out of muscle fibers.

At least 15 Muscular Dystrophy Association research grantees, past and present, have won funding from the National Institutes of Health through the American Recovery and Revitalization Act (ARRA) to accelerate the search for treatments and cures for neuromuscular diseases.

Sargon de Jesus has always been a trivia buff and a fan of game shows that test trivia smarts. So when he earned an appearance on the popular TV game show Who Wants To Be A Millionaire, de Jesus was "totally psyched" and ready to take his shot at some big money.

Busy man

As someone who has cultivated a vast array of interests and talents, de Jesus possesses a broad and varied base of experience upon which to draw.

Families affected by muscle diseases known as centronuclear myopathies, including myotubular myopathy, may be interested in attending a conference in Houston July 24-26, either in person or online.

A protein present in skeletal muscles during fetal development and in the heart after birth can apparently compensate for a similar protein that's missing in a small percentage of patients with the muscle disease known as nemaline myopathy.

MDA research grantee Nigel Laing at the University of Western Australia in Perth was part of a multinational team of scientists, who published their findings May 25, 2009, in the Journal of Cell Biology.