Araya Puwanant, assistant professor in the department of neurology at the University of Pittsburgh, was awarded an MDA research grant totaling $298,852 over three years to try to facilitate therapy development by identifying practical and reliable endpoints in myotonic dystrophy (DM).

Myotonic dystrophy is characterized by progressive muscle weakness, muscle stiffness, and multi-organ involvement. In recent years there has been significant progress in developing specific treatment for this condition, but there is a critical need to identify outcome measures that are sensitive and appropriate to monitor disease progression and therapeutic response in the disease.

Dual Energy X-ray Absorptiometry (DEXA) scan is a simple imaging technique that has been used to quantitate lean tissue mass in other forms of muscular dystrophy. However, this technique has not yet been carefully evaluated in DM.

With colleagues, Puwanant will test whether DEXA measurements in affected muscles may provide a sensitive endpoint that can be bridged to meaningful clinical outcomes for clinical trials in DM.

If successful, Puwanant’s work could help prepare for new clinical trials and drug approvals in DM by making available practical, cost-effective and time-efficient endpoint measures for DM-associated myopathy in multi-center setting.

Funding for this MDA research grant began Feb. 1, 2017.

Maurice Swanson, professor in the department of molecular genetics and microbiology at the University of Florida College of Medicine in Gainesville, was awarded an MDA research grant totaling $300,000 over a period of three years to generate new research models for myotonic dystrophy (DM) and use them to test new therapeutic strategies.

One of the limiting factors for myotonic dystrophy therapy development has been a lack of animal models that recapitulate many of the aspects of the disease in humans.

With colleagues, Swanson will generate new mouse models for both type 1 and type 2 DM.

The team will use the models to investigate the molecular basis for the clinical differences and similarities between the two types of the disease. In addition, the team will test a new therapeutic strategy that involves blocking the production of disease-causing DMPK and CNBP expanded RNAs in all tissues of the body, including the central nervous system, by using small molecules that cross the blood-brain barrier.

If successful, the work could lead to the development of a new therapeutic strategy for DM.

Funding for this MDA research grant began Feb. 1, 2017.

Thurman Wheeler, assistant professor in the department of neurology at Massachusetts General Hospital in Boston, was awarded an MDA research grant totaling $330,000 over three years to develop biomarkers for myotonic dystrophy (DM) and other muscle disorders.

In the recently-concluded clinical trial testing a candidate antisense oligonucleotide (ASO) drug for DM type 1 (DM1), monitoring the potential drug effects required that patients undergo multiple muscle biopsies, a procedure that is invasive, painful, and, in pediatric patients, requires general anesthesia.

Wheeler and colleagues are working to develop biomarkers in human urine or blood that will reduce or eliminate the need for muscle biopsies to determine whether treatments are working; can be measured multiple times as needed during the trial, and will enable inclusion of children with myotonic dystrophy in upcoming trials. 

Wheeler’s work, if successful, may be applicable to many different treatment strategies for both myotonic dystrophy types 1 and 2, as well as extend to other muscular dystrophies and neuromuscular disorders.

Funding for this MDA research grant began Feb. 1, 2017.