Myotonic Muscular Dystrophy (MMD)

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.

MDA Commits $10.7 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Aug. 1.

MMD — Charles Thornton, M.D.

Charles Thornton, professor of neurology at the University of Rochester in New York, was awarded an MDA research grant totaling $308,935 over three years. The funds will help support Thornton's work to expedite the development of effective treatments for type 1 myotonic muscular dystrophy (MMD, also known as DM).

MMD — Thurman Wheeler, M.D.

Thurman Wheeler, assistant professor in the department of neurology and Center for Neural Development & Disease at the University of Rochester, New York, was awarded an MDA research grant totaling $396,000 over three years to identify potential therapies aimed either at slowing down the progression of muscle degeneration or improving muscle health in type 1 myotonic muscular dystrophy (MMD1, or DM1).

Doctors Surprised By Which Symptoms Matter Most to Adults with MMD1, FSHD

Traditionally, outcome measures— the observations investigators make in a clinical trial to decide whether one treatment is better than another or better than a placebo — are determined by factors in a disease that are considered important by physicians and other professionals.

But in recent years, there has been increasing interest in finding out what matters most to people with the condition being studied.

'Gapmer Antisense' Stops Disease in MMD1 Mice

An experimental treatment for type 1 myotonic muscular dystrophy (MMD1, or DM1) has corrected several aspects of the disease in an MMD1 mouse model.

A year after treatment with an experimental antisense oligonucleotide dubbed ASO 445236 ended, positive effects remained apparent in the mice.

MMD Briefs: New Drug Development, Perceptions of Modafinil

Type 1 myotonic dystrophy (MMD1, or DM1) and type 2 myotonic dystrophy (MMD2, or DM2) are complex, multisystem disorders caused by similar genetic flaws on chromosome 19 (MMD1) and chromosome 3 (MMD2). Treatments that target the underlying molecular causes of MMD1 and MMD2 are in development.

MMD — Fernando Morales

Fernando Morales, head of the genetic section at the Health Research Institute of the University of Costa Rica, has received an MDA grant totaling $366,210 over three years. The funding will help support Morales’ research to define the molecular underpinnings of type 1 myotonic dystrophy (MMD1, or DM1) and factors that modify the course of this highly variable, multisystem disease.

MMD — Ju Chen

MDA awarded $330,000 to professor of medicine Ju Chen at the University of California, San Diego, for research into the role of a protein called Cypher in skeletal muscle function and disease.

MMD — Araya Puwanant, M.D.

MDA has awarded a clinical research training grant totaling $173,400 to Araya Puwanant at the University of Rochester (New York) Medical Center. The new funds will support completion of a two-year fellowship during which Puwanant will study the disease process in myotonic muscular dystrophy (MMD, or DM).