Research

When Dr. Thurman Wheeler was a resident in neurology, he remembers a senior physician telling him that myotonic dystrophy would probably be one of the most difficult diseases to treat because it involves so many body systems.

Biomarkers of various Contexts of Use are essential for drug development in DM—recent guidance documents and publications point to exciting new opportunities.

Longitudinal assessment of cognitive function in adult- and late-onset DM1 reveals a pattern of cognitive decline that can be modeled as an early-onset and acceleration of normal aging.

In November, MDF staff met with the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS) senior leadership and program/policy staff to discuss research opportunities and federal support for myotonic dystrophy (DM). Discussions focused on two areas: the scientific workforce and biomarker and registration endpoint development.

Scientists from a consulting firm with considerable experience in evaluation of patient-reported outcome measures evaluated available PROMs for their potential in DM1 clinical trials.

Lukasz Sznajder, Ph.D., is developing a mouse model for type 2 myotonic dystrophy, a crucial step that is expected to advance understanding of and therapy for this disease.

In a recent study by Dr. Richard Moxley, III, MD, and colleagues at the University of Rochester, researchers assessed disease manifestations and adherence to medications for DM1 and DM2 patients. The study was motivated in part by the fact that DM patients need to take multiple prescriptions to manage disease symptoms associated with a number of different body systems.

Laura Renna, Ph.D., thinks there may be more to the insulin resistance story in myotonic dystrophy than abnormal insulin receptor splicing. She intends to probe the question by testing three insulin mimetics in cells taken from DM patients and age-matched controls.