Limb-Girdle Muscular Dystrophy (LGMD)

MDA Conference Brings Together Researchers, Clinicians, Industry

Moving therapeutic strategies from the laboratory to clinical trials and ultimately to the market as treatments was the theme of the MDA National Scientific Conference held March 13-16, 2011, in Las Vegas.

Some 300 people attended the conference, the first in a planned series of such MDA-sponsored meetings that will emphasize new research and current medical care. The majority of presenters and many of the audience members were current or former MDA research grantees or physicians at MDA-supported clinics.

Research Briefs: CMS, DMD, LGMD, Pompe, Stem Cells

Congenital myasthenic syndromes

A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).

MDA Awards $13.5 Million in Research Grants

The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association’s program.

The new grants were reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.

Muscle Disease Quality-of-Life Study Seeks Participants

Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.

The study also is recruiting 30 adults with no neuromuscular disease.

Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).

Encouraging Results in LGMD Gene Therapy Trial

Results from an MDA-supported, phase 1 study of gene therapy for the type 2D form of limb-girdle muscular dystrophy (LGMD2D) show sustained protein production from the transferred genes in two out of three trial participants six months after injection of the genes into a foot muscle.

The new results follow an announcement last year showing protein production from transferred genes in the first three participants in this trial at either six weeks or three months after the gene transfer.

Advocacy a Focus for New Ms. Wheelchair America with LGMD

McArthur was crowned Ms. Wheelchair American at the pageant in Grand Rapids, Mich., this August. (Glen Lipton Photography)

Deshae Lott Scholarships Awarded

Three accomplished scholars determinedly pursuing their educations while living with neuromuscular disease are the first winners of the CMMS Deshae Lott Ministries outreach program scholarships.

“We were so impressed,” with the winning candidates, said Deshae Lott, 39, a teacher and minster from Bossier City, La., who founded the nonprofit that bears her name. “These three show great strength of mind and character. Each of them strives to maximize within their limitations.”

Race, Cardiomyopathy Shorten Life Span in MD

A new study reported by the Centers for Disease Control and Prevention (CDC) shows that survival time has significantly increased for certain categories of people with muscular dystrophy (MD) but that race and cardiac status have a large impact on survival.

Study Seeks People With Uncertain MD Diagnoses

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 Awards More Than $14 Million in Research Grants

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.

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