Australian National Myotonic Dystrophy Registry

Background

Recent scientific and medical advances have led to substantial changes in the treatment of many neuromuscular diseases (NMD). New therapeutic strategies are being developed and, for some of these treatments, plans for large studies involving patients from more than one country are already in place.

The Australian National Myotonic Dystrophy (DM1) Registry has been developed to collate a patient’s DM1 gene sequence and clinical information about their disease. The Registry provides an important enabling tool for clinicians and clinical trial sponsors to quickly identify patients suitable for each study, particularly those therapeutic strategies that target specific genetic defects. Potentially eligible patients will be informed about new trials and studies through the Registry’s clinical network.

Purpose

To provide Australian myotonic dystrophy families with an opportunity to improve the outcomes of individuals affected by DM1.

Objectives

To improve care of DM1 patients through the coordination of diagnosis and therapy and by ensuring new intervention strategies are available in an equitable and consistent manner across Australia; and and

To improve opportunities for international collaboration by facilitating and accelerating the recruitment process of Australian DM1 patients into new clinical trials and for participating in studies for the benefit of the world DM1 community and the advancement of medical science.

The Australian National DM1 Registry adheres to the National Health and Medical Research Council's National Statement, forms part of an international effort led by TREAT-NMD, which brings together patients and specialists working on treatments for neuromuscular (NMD) disorders, and has received approval reference #2010/49 from the Department of Health WA Human Research Ethics Committee.

Contact

For more information on the Australian National Myotonic Dystrophy Registry, please contact the appropriate person from the hospital you attend in the Contact List attached.

The consent form for patients wishing to participate in the registry can be downloaded here.