Research

The results of a new MDF-funded study on the impact of congenital myotonic dystrophy are now available from Dr. Nicholas Johnson of the University of Utah and colleagues. The high frequency of social and cognitive issues in their findings underline the need for a multi-disciplinary approach to care. 

Many common DM symptoms become more severe during pregnancy, and women with DM have higher than average miscarriage rates, according to a study commissioned by MDF that examined data from the Myotonic Dystrophy Family Registry and the National Registry for DM and FSHD.

Anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics.

MDF is pleased to welcome Dr. Kathie Bishop, Ph.D., to its Scientific Advisory Committee(SAC). Dr. Bishop, who joined the SAC in summer 2015, is a seasoned expert in neurological and neuromuscular research and drug development.

MDF is pleased to welcome Laura Ranum to its Scientific Advisory Committee (SAC). Dr. Ranum, who joined the SAC in summer 2015, is an internationally known investigator of disorders that result from repeat expansion mutations, such as those that cause type 1 and type 2 myotonic dystrophy (DM1 and DM2).

The Myotonic Dystrophy Foundation partnered with Silicon Valley Research Group to develop a survey to better understand how people with DM weigh the benefits of new treatments again the risks. 

MDF is pleased to welcome Tom Cooper, MD, to our Scientific Advisory Committee (SAC). Dr. Cooper, who joined the SAC in summer 2015, is a renowned myotonic dystrophy (DM) investigator whose laboratory has made major contributions to understanding the molecular pathogenesis of the disease and pointing the way toward rational therapeutic development.

MDF hosted the Myotonic Dystrophy Patient-Centered Therapy Development Meeting in Washington, D.C. on September 17, 2015. The regulatory workshop featured speakers from academia, industry and the FDA. 

Conjugation of morpholino phosphorodiamidate oligomer (PMO) ASOs to a cell-penetrating peptide improves their bioavailability and efficacy in skeletal muscle of a DM1 model.