Spinal-Bulbar Muscular Atrophy (SBMA)

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

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.”

SBMA — Albert La Spada, M.D., Ph.D.

Albert La Spada, professor of cellular and molecular medicine, neurosciences and pediatrics at the University of California, San Diego, was awarded an MDA research grant totaling $300,000 over a period of three years to study the causes of neurodegeneration (loss of nerve cells) in spinal-bulbar muscular atrophy (SBMA).

SBMA/ALS — Constanza Cortes, Ph.D.

Constanza Cortes, a postdoctoral researcher at the University of California, San Diego, was awarded an MDA development grant totaling $177,410 over a period of three years to study the role of a cell recycling system in spinal-bulbar muscular atrophy (SBMA or Kennedy disease) and amyotrophic lateral sclerosis (ALS).

SBMA: Mixed Results in Study of Clenbuterol

A 20-person, open-label pilot trial conducted in Italy and designed to test the safety, tolerability and efficacy of clenbuterol in people with spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) found that the drug was well-tolerated, although some possible safety issues were identified. Trial investigators note that the study findings suggest a possible “positive effect on SBMA disease progression.”

‘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.

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.

Arimoclomol Slows Disease Progression in SBMA Mice

Mice with a disorder mimicking human spinal-bulbar muscular atrophy(SBMA, or Kennedy disease) that were treated with an experimental therapy called arimoclomol showed improved nerve-cell survival, increased body weight, and better muscle strength and function than mice that didn't receive the treatment.

IGF1 Shows Benefit in SBMA Mice

Mice with a disease resembling spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) that were treated with a compound based on insulin-like growth factor 1 (IGF1) had better motor function, slower weight loss, healthier muscles and longer survival time than mice that received an inactive substance, an MDA-supported research team has reported.

SBMA — Andrew Lieberman, M.D., Ph.D.

Andrew Lieberman, assistant professor of pathology at the University of Michigan Medical School in Ann Arbor, was awarded an MDA research grant totaling $405,000 over three years to study a new therapy approach for spinal-bulbar muscular atrophy (SBMA).

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