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Patient and Clinical registries open to Australians

Rare Disease Registries - GUARD Position Statement

The GUARD Collaborative represents over 100 support groups and support organisations for people with genetic and rare conditions across Australia and endeavours to reflect their collective view.

Rare diseases are recognised as a public health (i) priority and a global health issue (ii) because of their impact on the individual and the health system. Rare disease registries are fundamental to supporting collaborative research that will improve outcomes for people with genetic and rare conditions by increasing knowledge and supporting health (iii).

GUARD and its members recognise the fundamental importance of registries for translational research and clinical care to improve outcomes for rare disease patients. To have the greatest positive impact for people living with rare diseases, we consider that these registries should seek opportunities for national and international collaboration (iv) and promote rare disease as a collective group of conditions (similar to the approach taken with chronic disease management). In addition, they should be established within a clinical quality registry framework (v,vi,vii) The creation of centres of excellence should be a consideration in the development of registries to ensure the best possible outcome for people with genetic and rare conditions. Patient advocacy and support organisations should be primary stakeholders in establishing, maintaining, utilising and translating the benefits resulting from these registries.

It is acknowledged that many Australian rare disease registries already exist and have been, in many instances, highly successful in supporting research and product development that has improved the lives of their members. We recognise existing registries may need time to meet the requirements of any new framework and should not be adversely impacted by the implementation of such a framework.

A rare disease registry should have patient outcomes and involvement as the central and underpinning themes(viii,ix). To facilitate this, patient support organisations should be actively engaged in the development and governance of registries. In order to provide ongoing psycho-social support, efforts should be made to ensure patients are referred for support and information to the associated support organisation or an umbrella organisation.

A rare disease registry framework in Australia should facilitate:

  • Improved patient outcomes, including via diagnosis, pharmaceutical development and treatments and other changes in clinical practice and the accessible dissemination of information about these changes.
  • The establishment and maintenance of a communication network that includes treatment centres and/or experts, education and other health and disability professionals.
  • The assessment of resource allocation/requirements to address highest priorities in achieving successful outcomes.
  • Wherever possible data should link with hospital presentations and other service utilisation information to assess the burden of disease and related outcomes.
  • Interoperability with international initiatives.
  • Information being available to other services such as education and disability to ensure the full impact of genetic and rare disease is covered.

Australian rare disease registries should:

  • Be informed by a rare disease framework and this should be developed based on the principles outlined by EURORDIS and follow the criteria to be recognised as an Australian clinical quality registry to reduce incomplete data and ensure that replicable patient outcome data is captured.
  • Ensure that consent is collected in compliance with relevant jurisdictional guidelines and is underpinned by patient rights.
  • Make use of existing information communication and technology capability and architecture(x).
  • Collaborate with appropriate support organisations and relevant services to make best use of data linkage capabilities to utilise related data sets.
  • Research should, wherever possible and reasonable, utilise or build on existing rare disease registries to limit duplication.
  • Rare disease registries require infrastructure and funding for sustainability and should therefore be located where this can best be provided.

 

i http://ww2.health.wa.gov.au/~/media/Files/Corporate/Reports%20and%20publications/PDF/Rare-diseases-strategic-framework.ashx

ii http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf

iii http://www.eurordis.org/sites/default/files/publications/Factsheet_registries.pdf

iv https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015362/

v http://www.safetyandquality.gov.au/wp-content/uploads/2014/09/Functional-Overview-of-Austrlian-Clinical-Quality-Registries.pdf

vi http://www.med.monash.edu.au/sphpm/depts-centres-units/registries/index.html http://www.med.monash.edu.au/sphpm/depts-centres-units/registries/index.html

vii http://www.safetyandquality.gov.au/wp-content/uploads/2014/09/Framework-for-Australian-Clinical-Quality-Registries.pdf

viii http://www.eurordis.org/sites/default/files/publications/Factsheet_registries.pdf

ix https://rarediseases.org/for-patient-organizations/ways-partner/patient-registries/nord-fda/

x https://bitbucket.org/ccgmurdoch/disease_registry

Australian Leukodystrophy Registry

Registry Location Australia

National Familial Hypercholesterolemia Registry

Abbreviation National FH Registry
Registry Location Australian

International Schwannomatosis Database

Abbreviation ISD
Registry Location International - available to Australians

Human Variome Project – Australian Node

Abbreviation HPV
Registry Location Australia

The Global Registry for COL6-related Dystrophies

Registry Location International - available to Australians

GNEM Disease Monitoring Program

Abbreviation GNEM-DMP
Registry Location International - available to Australians

Cantú Syndrome Registry

Registry Location International - available to Australians

Australian National Spinal Muscular Atrophy Registry

Abbreviation SMA
Registry Location Australia

Australian National Duchenne Muscular Dystrophy Registry

Abbreviation DMD
Registry Location Australia

Down Syndrome-Connect Registry

Abbreviation DS-Connect
Registry Location International - available to Australians

Victorian Lung Cancer Registry

Abbreviation VLCR
Registry Location Australia - Victoria

International Dysferlinopathy Registry

Registry Location International - available to Australians

Limb-Girdle Muscular Dystrophy Type 2A Patient Registry

Abbreviation LGMD2A
Registry Location International - available to Australians

Myeloma and Related Diseases Registry

Abbreviation MRDR
Registry Location Australia and New Zealand

Myotubular and Centonuclear Myopathy Patient Registry

Registry Location International - available to Australians

Neonatal Alloimmune Thrombocytopenia Registry

Abbreviation NAIT
Registry Location Australia

Prostate Cancer Outcome Registry – Australia and New Zealand

Abbreviation PCOR-ANZ
Registry Location Australia and New Zealand

Rare Diseases Clinical Research Network Contact Registry

Abbreviation RDCRN
Registry Location International - available to Australians

Registry of Kidney Diseases

Abbreviation ROKD
Registry Location Australia

Thrombotic Thrombocytopenia Purpura Registry

Abbreviation TTP
Registry Location Australia and New Zealand

Upper Gastrointestinal Cancer Registry

Abbreviation UGICR
Registry Location National - currently operating in Victoria and New South Wales

Victorian Cardiac Outcomes Registry

Abbreviation VCOR
Registry Location Australia - Victoria

Prostate Cancer Outcomes Registry – Victoria

Abbreviation PCOR-Vic
Registry Location Australia - Victoria

WA Register for Autism Spectrum Disorders

Registry Location Australia - Western Australia

Western Australian Cancer Registry

Registry Location Australia - Western Australia

Western Australian Register of Developmental Anomalies

Abbreviation WARDA
Registry Location Australia - Western Australia

Idiopathic Pulmonary Fibrosis Registry

Abbreviation IPF
Registry Location Australia

Hypersomnolence Australia, Idiopathic Hypersomnia Patient Registry

Registry Location Australia and New Zealand

Australian Calciphylaxis Registry

Registry Location Australia (no exclusion of non-Australian participants)

Australian Genetic Heart Disease Registry

Registry Location Australia

Australian Cystic Fibrosis Data Registry

Abbreviation ACFDR
Registry Location Australia

Australian and New Zealand Paediatric Intensive Care Registry

Abbreviation ANZPIC
Registry Location Australia and New Zealand

Australia and New Zealand Dialysis and Transplant Registry

Abbreviation ANZDATA
Registry Location Australia and New Zealand

Australasian Psoriasis Registry

Registry Location Australia and New Zealand

Australasian Colorectal Cancer Family Registry

Registry Location Australia and New Zealand

Aplastic Anaemia Registry

Abbreviation AA
Registry Location Australia

Alzheimer’s Prevention Registry

Registry Location International - available to Australians

Australian Autologous Haematopoietic Stem Cell Transplant Multiple Sclerosis Registry

Abbreviation Australian MS AHSCT
Registry Location Australia

Australian and New Zealand Society of Cardiac and Thoracic Surgeons, National Cardiac Surgery Database Program

Abbreviation ANZSCTS
Registry Location Australia and New Zealand

Australian Bleeding Disorders Registry

Abbreviation ABDR
Registry Location Australia

Australian Bronchiectasis Registry

Abbreviation ABR
Registry Location Australia

Australian Congenital Anomalies Monitoring System 

Abbreviation ACAMS
Registry Location Australia

Australian Mitochondrial Disease Patient Registry

Abbreviation Mito Registry
Registry Location Australia

Australian Motor Neurone Disease Registry

Abbreviation MND
Registry Location Australia

Australian National Creutzfeldt-Jakob Disease Registry

Abbreviation CJD
Registry Location Australia

Australian Inherited Retinal Disease Registry and DNA Bank

Registry Location Australia

Australian Haemoglobinopathy Registry

Registry Location Australia

Australian Orthopaedic Association National Joint Replacement Registry

Abbreviation AOANJRR
Registry Location Australia

Australian National Myotonic Dystrophy Registry

Abbreviation DM1
Registry Location Australia

Australian New Zealand Clinical Trials Registry

Abbreviation ANZCTR
Registry Location International - available to Australians

Australian Rheumatology Association Database

Abbreviation ARAD
Registry Location Australia

Bariatric Surgery Registry

Abbreviation BSR
Registry Location Australia

NSW and ACT Hereditary Cancer Registry

Abbreviation HCR
Registry Location Australia - NSW and ACT

Global Fukutin Related Protein Registry

Abbreviation FKRP
Registry Location International - available to Australians

Global Angelman Syndrome Registry

Registry Location Australia

Familial Cancer Registry

Registry Location Western Australia

Congenital Muscle Disease International Registry

Abbreviation CMDIR
Registry Location International - available to Australians

Cerebral Palsy Register

Abbreviation CP Register
Registry Location Australia and New Zealand

Friedreich’s Ataxia Global Patient Registry

Abbreviation FA Global Patient Registry
Registry Location International - available to Australians

GenomeConnect: The ClinGen Patient Registry

Abbreviation GenomeConnect
Registry Location International - available to Australians

Further information on International registries can be found in the Orphanet Report Series - Rare Disease Registries in Europe - May 2018 (page 40)

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