Myotubular Myopathy (MTM or MM)

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Inherited and Endocrine Myopathies

Description: 

MDA leads the search for treatments and therapies for inherited and endocrine myopathies. The Association also provides comprehensive supports and expert clinical care for those living with inherited and endocrine myopathies.

In this section, you’ll find up-to-date information about inherited and endocrine myopathies, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

MDA Awards Grant to Test MTM Gene Transfer in Dogs

MDA’s translational research program has announced it is funding research into a potential treatment for the inherited muscle disorder X-linked myotubular myopathy (MTM).

The grant of $369,365 grant to Wake Forest University professor Martin Childers will fund a three-year study of myotubularin gene transfer in mice and dogs that have an MTM-like disease.

Research Briefs: CMT, IBM, LGMD, MTM/CNM, Pompe disease

Charcot-Marie-Tooth disease

A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment) is testing ascorbic acid in CMT1A at a dosage of 4 grams per day for two years.

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.

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).

Research Briefs: ALS, DMD, MTM and SMA

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.

MTM: Unlocking Muscle Fibers to Myotubularin

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.

CNM, MTM Research: Families Gather

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.

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