Quest Magazine

Pompe Disease 'Chaperone' Drug Moving Forward

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:

DMD: Which Steroid Regimen Is Best?

Prednisone and other drugs in the corticosteroid family have become standard treatment for Duchenne muscular dystrophy (DMD) in much of the world for almost a decade. In this disorder, they slow the decline of muscle function and prolong walking ability. However, corticosteroids have significant side effects, such as weight gain, bone loss, cataracts and behavior changes.

Strong Community Support Essential to Passage of Critical Muscular Dystrophy Legislation

Note: The MD CARE Act is a critical part of the historic effort to find cures for muscular dystrophies. Watch for articles in the coming weeks that delve further into the remarkable progress attributable to this important legislation.

SMA 'NeuroNEXT' Biomarkers Study Seeks Participants

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

Researchers conducting a study of natural history and biomarkers in infants with type 1 spinal muscular atrophy (SMA) currently are recruiting participants at 15 locations across the United States.  

Unique ALS ‘Exome-Sequencing’ Project Is Focus of New Grant

DMD: Vasodilator Drug Study Needs Four Boys

A 12-participant study of the acute effects of two vasodilating drugs on blood flow to exercising muscles needs four more boys with Duchenne muscular dystrophy (DMD) who meet study criteria and are able to travel to Los Angeles. Vasodilators increase the diameter of blood vessels.

Grants Support Study of New Genes, New Drug Discovery Strategies for ALS

Twelve new grants totaling $3.6 million have been awarded in support of research studies that will explore the causes of, and potential treatments for, amyotrophic lateral sclerosis (ALS).

LGMD2A Registry Seeks Participants

A recently opened global registry— a database of patient information — is seeking people with the type 2A form of limb-girdle muscular dystrophy (LGMD2A), a form of LGMD that results from a deficiency of the calpain 3 protein.

Diagnostic Blood Test for ALS Under Development

Development is under way of a blood test that may help doctors rule in or rule out a diagnosis of amyotrophic lateral sclerosis (ALS).

FDA To Hold ALS Public Hearing: Input Encouraged by Feb. 8

The Food and Drug Administration (FDA) will hold a public hearing on amyotrophic lateral sclerosis (ALS) on Feb. 25. It will be open to individuals and caregivers affected by ALS, ALS clinical research experts, and those with strong opinions about the needs of the ALS community.

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