Australia’s first DMD registry

Title: Australian National Duchenne Muscular Dystrophy Registry
Description:The availability of health information via the internet has become a critical resource for clinicians, researchers and affected families. Parents and advocacy groups have also become increasingly aware of international registries that provide opportunities for children to access new therapies through clinical trials. In Australia, Duchenne muscular dystrophy (DMD) advocacy groups led by the Duchenne Foundation Australia, in conjunction with the state Muscular Dystrophy Associations, the Muscular Dystrophy Foundation, other support groups and affected families, made representations to state and federal politicians and health ministers to establish a national registry. Their relentless campaigning led to the development of the very first Australian National DMD Registry to collate clinical and genetic information. The establishment of the Registry was made possible by the inter-jurisdictional cooperation of the state clinical and genetic testing services across the country with coordination and key support from Dr Hugh Dawkins and the Office of Population Health Genomics, Department of Health WA.

The Australian Duchenne Muscular Dystrophy Registry provides an opportunity for Australian DMD patients to participate in clinical trials being undertaken anywhere in the world. The Registry is linked directly to the TREAT-NMD global network of registries, an international effort which has proven effective in improving the health and management of boys with DMD. 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.

Potential Benefits of a DMD Registry

• Centralise information and provide an interface between patients, doctors and researchers

• Coordination of diagnosis, therapy and prevention – universally available across Australia

• Promote sense of community and belonging among affected patients and families and provide ready access to information concerning standards of care, research and available therapies

• Monitor and benchmark data to improve health care performance across institutions and providers

• Promote baseline standards of care available to all patients and families – provision of the “right care at the right time”

• Provide essential information necessary to leverage government and industrial support for further infrastructure

The database is open to anyone affected by DMD and is entirely voluntary – data obtained is held securely and confidentially. Most of the clinical and genetic information about each patient will be entered locally by the patient’s primary physician in association with the genetic testing laboratories in each state.

Patient information will be de-identified in any central/international data collections – so that only clinical and genetic data is made available. Potentially eligible patients will be informed about new trials and studies through their primary physicians.

To REGISTER, it is as simple as:

1. Print off the consent form

Patients diagnosed with DMD can register in consultation with their doctor. The consent form is located here.

2. Read the patient information

The information provided by patients is confidential and only information about the patient’s disease will be added to the global registry (ie. not name or address).

3. Complete the form: 7 yes/no questions

Completing the form by ticking yes or no to 7 questions.

4. Register

The completed form can be sent to:

Australian DMD Registry Coordinator

c/o Office of Population Health Genomics

PO Box 8172

Stirling Street

Perth WA 6849