Australian Registry: Spinal Muscular Atrophy

Australian National Spinal Muscular Atrophy Registry

The Australian National SMA Registry provides an opportunity for Australian SMA 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 SMA 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.

To REGISTER, it is as simple as:

1. Print off the consent form

Patients diagnosed with SMA can register in consultation with their doctor.

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 SMA Registry Coordinator

c/o Office of Population Health Genomics

PO Box 8172

Stirling Street

Perth WA 6849