REGISTRIES, RESEARCH & TRIALS
CTDNA wants to keep members of the heritable connective tissue disorders (HCTDs) community informed about current and ongoing patient registries that might be relevant to them, as well as any research or clinical trials they might be eligible to participate in.
Below are the details of the registries and research we know about. If you know of any others that we might have missed, please feel free to contact us.
If you would like to discuss partnering with CTDNA in research see below.
Partner with us in research
Bringing lived experience into HCTD research
Research should reflect what matters to the people it aims to help.
Connective Tissue Disorders Network Australia (CTDNA) is the national peak body for people affected by heritable connective tissue disorders (HCTDs), including Ehlers–Danlos syndromes, Marfan syndrome, Loeys–Dietz syndrome and related conditions. We also represent people with hypermobility spectrum disorders.
As a lived experience led organisation, we welcome discussions with researchers seeking to improve understanding, diagnosis, care and quality of life for our community.
How we can contribute
Depending on the project and our capacity, CTDNA may contribute through:
- Research priorities: identifying questions and evidence gaps that matter to our community.
- Study design: advising on surveys, participant information and the practical burden of taking part.
- Lived experience involvement: helping plan meaningful opportunities for people with HCTDs, families and carers to shape research.
- Community engagement: considering requests to share suitable research opportunities through our networks.
- Interpreting and sharing findings: bringing community perspectives to results and helping communicate their relevance in plain language.
Our contribution may draw on our organisational experience, Lived Experience Advisory Panel and Scientific and Medical Advisory Committee, subject to availability and relevance.
Working with CTDNA
Please approach us early, ideally while developing your research proposal and budget.
We value partnerships that give people with lived experience a meaningful voice in decisions, recognise the diversity of HCTDs and lead to findings that are shared with the community.
The scope of CTDNA’s involvement, responsibilities, acknowledgement and use of our name or logo must be agreed before we are listed as a project partner.
Budgeting for involvement
We encourage research teams to budget for consumer remuneration and reimbursement of expenses, and for support from CTDNA where the involvement sought is significant. The scope and resourcing of CTDNA’s contribution can be discussed during project planning.
Discuss a research partnership
Please contact us with:
- A brief project summary and the research team or institution.
- The contribution you are seeking from CTDNA.
- Key dates, including grant deadlines.
- Available or proposed funding for our involvement.
- Ethics approval status, where relevant.
CTDNA is volunteer and lived experience led. We consider requests according to community relevance, project requirements and our available capacity.
AUSTRALIAN REGISTRIES
STICKLER SYNDROME
Researchers across The Centre for Eye Research Australia and The University of Melbourne have collaborated to establish a Patient Registry for Australians with inherited retinal diseases (IRDs); providing a database which can be drawn upon for upcoming Clinical Trials for suitable registrants. Allowing also a way for natural progression of disease data to be gathered, monitored and evaluated.
The Victorian evolution of inherited retinal diseases natural history registry (VENTURE) study aims to drive research forward in a meaningful manner for Australians living with IRDs (particularly of importance for those in the HCTD community living with Stickler syndrome).
Follow the link here for more information on the study or to understand how you might get involved email: IRD@groups.unimelb.edu.au.
RARE DISEASE REGISTRY
Researchers at The Garvan Institute of Medical Research established in 2024 The Genomics of Rare Disease Registry.
With many HCTDs being truly Rare Diseases you may be eligible* to join this exciting endeavor that aims to connect families affected by an inherited rare disease to new research opportunities, including studies that can assist with finding a genetic diagnosis.
*At this stage, the Registry does not have capacity to recruit individuals where the underlying cause is unlikely to be strongly genetic. Some examples of diseases we are not recruiting for at present are cancer (except familial cancer syndromes), rheumatoid arthritis, fibromyalgia, or hypermobile Ehlers-Danlos syndrome. We will update if this is to change in future.
AUSTRALIAN RESEARCH
hEDS Survey Poster Presentation – APASC2025
Associate Professor Cherie Wells from the University of the Sunshine Coast, in collaboration with research team members including; Rohan Toft, Dr Boris Budiono (CTDNA SMAC), and Dr Ian Skinner, of Charles Sturt University presented the groups research findings at the Australian Physiotherapy Association Scientific Conference 2025 as a Poster Presentation.