Home / News / Research

Research

Research Fellow Profile: Lukasz Sznajder

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.

Update: IONIS-DMPKRx Phase 1/2a Study

Ionis Pharmaceuticals recently announced completion of the IONIS-DMPKRx Phase 1/2a clinical trial, and stated that it expects to have analysis of the data collected through that study completed by early January 2017. The study was designed to evaluate the safety and tolerability of multiple doses of an investigational compound, IONIS-DMPKRx, in adult patients with DM1.

Compliance with Prescribed Medication Among Patients Living with Myotonic Dystrophy

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.

Research Fellow Profile: Dr. Laura Renna

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.

Research Fellow Profile: Dr. Ginny Morriss

Ginny Morriss, Ph.D., is exploring whether reducing levels of the CELF1 protein, which are abnormally high in DM1-affected skeletal muscles, has a positive effect on these muscles. She’ll be studying mice in which disease-causing repeat expansions can be induced at any age.

The Curious Dilemma of Classifying DM1

Analysis of data from the French DM-Scope registry lend support to a five-grade model of DM1 that may help guide patient management, biomarker and modifier gene discovery, and clinical trials.

Qualifying a Biomarker for DM

A recent publication suggests that the DM field may be on the cusp of having a critically important molecular biomarker to facilitate decision-making in early-stage clinical trials.

Professionals Track at MDF Annual Conference a Success

For the first time, the 2016 MDF Annual Conference included a closed, professionals-only track focused on providing updates on basic scientific discovery and efforts focused on therapy development. 

Dmpk Silencing is Unlikely to be a Confounding Factor for ASO Treatment of DM1

New studies in mouse models show that constitutive or acquired loss of Dmpk has no effects on skeletal or cardiac muscle function.

Kidney Dysfunction is a Risk in DM1: How to Best Assess It

Since DM1-related loss of muscle mass confounds a common biomarker of kidney dysfunction, creatinine levels, serum cystatin C provides a superior measure of renal dysfunction for both patient management and clinical trials.

 

Partners

© Myotonic Dystrophy Foundation. All rights reserved.