Patient Registries

The local landscape

There is very little data and virtually no Australian data on the prevalence of neuromuscular disorders. Monique Ryan, in partnership with the Australian Paediatric Surveillance Unit, recently led a study to ascertain the prevalence of a number of paediatric neuromuscular disorders in Australia. The study was completed in December 2009 and the data is currently being analysed, however the data is clearly  of limited value due to incomplete ascertainment of patients. The study failed essentially because of inability to gain a cohesive commitment from all relevant centres in Australia. Despite these failings, the study data clearly demonstrates the marked inaccuracies of historical data from overseas, and highlights the need for a unified national commitment to understanding the epidemiology of these conditions in the Australian population. To argue cost efficiencies of care – we need accurate information.

Following a nationwide campaign by the Duchenne Foundation, The Office of Population Health Genomics, WA is leading the development of the Australian DMD register. The project is currently in Phase I development. Site architecture has been completed, contact, consent forms and patient registration processes (modelled on those of TREAT-NMD) are being finalised, and protocols for annually updating the database have been established. Patients will be invited to register through clinicians sending information to families, or patients being made aware of the registry by  patient advocacy groups. Subjects consent and register online themselves. Current funding supports the design of the website but there is no funding currently available to support a curator.

The Charcot-Marie-Tooth registry, established by Josh Burns and Monique Ryan in partnership with the Charcot-Marie-Tooth Association, was a useful tool for the recruitment of patients into a recently completed clinical trial of  Vitamin C for CMT type 1A, and it also forms part of an Inherited Neuropathies Consortium (NIH supported) that interacts directly with TREAT-NMD. One of the key lessons learnt in establishment of the Australian CMT Registry was that initially there was too much information captured for each patient registered – over the course of the project, the documentation was reduced from 30 pages to a one (1) page form, improving patient capture and data acquisition.

An overseas model

TREAT-NMD has established a global database that now holds de-identified data (patients tracked only by a reference code) for over 10,000 persons with Duchenne muscular dystrophy.  This database pulls agreed mandatory information (simple information such as can you walk, are you taking steroids, what is your gene mutation, are you on ventilation) from local databases hosted at a national level. The local databases may include additional information not captured by the TREAT-NMD database, in addition to full contact details for patients. The databases are managed by a curator, who ensures the genetic report is captured correctly, quality-checks the clinical items and is responsible for communication with patients at a national level. The national registries work with the TREAT-NMD global oversight committee. Any enquiries relating to clinical trials are managed through the curator and the oversight committee to respond to trial queries within 4 weeks.

The TREAT-NMD global SMA registry is at a similarly advanced level of development and those for other conditions (DM1, CMD, CMT, FKRP mutations) are also under preparation in collaboration with other groups. TREAT-NMD welcomes opportunities to link up with national bodies, which can administer their registries in the way most appropriate for their own national situation, and simply have to agree to capture the minimal “mandatory” data items and to sign  the registries charter.

The future

Registries are an essential resource for large clinical trials. They can facilitate dissemination of standards of care to patients and clinicians, and identification of subjects eligible for clinical trials. This will result in raising the standards of care of  DMD and other conditions in which registries exist.

The coordination of registries within Australia would require the inclusion of key mandatory simple questions, data from which would be aggregated,de-identified and transferred to a global registry. Additional information may also be requested to include 1. whether the diagnosis has been confirmed by genetic testing and 2. when and where diagnostic testing was performed.

The establishment of an integrated network will:

  • increase the quality of clinical trials being conducted in Australia
  • increase the number of trials conducted
  • increase the number of patients routinely being offered clinical trial participation in a greater variety of clinical settings
  • increase the timeliness and efficiency of recruitment
  • ensure equity of access to enrolment in clinical trials for all patients in Australia and New Zealand.


  1. Hugh Dawkins from the Office of Population Health Genomics guided the development of the DMD registry with others to follow.
  2. The National CMT Registry is developed and will be run in collaboration with NIH and TREAT-NMD
  3. We will aim to establish similar registries for other disorders e.g. CMD, LGMD, congenital myopathies, FSH, Myotonic dystrophy, SMA. It has also been suggested that we develop a database of “undiagnosed” patients which will facilitate diagnosis and research into gene discovery.