Neuromuscular Junction Diseases

LEMS: Firdapse Study Shows Encouraging Results

Study Seeks Parents, Guardians of Young Children with Neuromuscular Disease

The National Institute of Nursing Research, part of the National Institutes of Health (NIH) in Bethesda, Md., is seeking parents or guardians of children from birth through age 5 with a neuromuscular disease for a study to develop a questionnaire about motor function in young children.

LEMS: Jacobus Expands Trial of 3,4-DAP

Jacobus Pharmaceutical of Princeton, N.J., is continuing its placebo-controlled trial of 3,4-diaminopyridine (3,4-DAP) for people with Lambert-Eaton myasthenic syndrome (LEMS) who have been receiving the drug through Jacbobus' "expanded access" (also called "compassionate use") program. The study, which began in January 2012, was originally by invitation only.

MDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projects

In its summer 2013 round of research grant awards, the Muscular Dystrophy Association aims to catalyze research progress in a dozen neuromuscular diseases, with an eye toward applying that knowledge to related muscle diseases, as well.

“A large number of our grants are investigating new therapeutic technologies,” notes Jane Larkindale, MDA's vice president of research. “These are 'platform' technologies, where successes can be transferred well beyond the specific disease in which they are developed and tested.”

MG: Can the Immune Response Be Tamed?

It can start with nothing more than a drooping eyelid or a slight slurring of speech, either of which can come and go and improve with rest. But it can progress, often gradually over weeks or months, to affect all the voluntary muscles, including those controlling breathing. Weakness may be minimal early in the morning after a good night's sleep and worsen throughout the day, especially after periods of activity.

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

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 clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

Research Briefs: DMD, Leigh Syndrome, MG, Periodic Paralysis, Pompe Disease

Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.

Registry Seeks Participants with Congenital Muscle Disorders

An international patientregistry (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.

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

$13.6 Million in New MDA Grants Promote Understanding, Treatment of Neuromuscular Diseases

The Muscular Dystrophy Association has awarded 44 new grants totaling $13.6 million to advance the understanding and treatment of neuromuscular diseases. The new grants, most of which took effect Feb. 1, encompass a range of diseases covered by MDA’s research program, and they support innovative approaches to basic research and new drug development.

In addition to addressing 16 specific neuromuscular diseases under MDA’s umbrella, the grants also fund research into muscular dystrophy in general, and research into muscle physiology related to neuromuscular disease.

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