Registries, RESEARCH & TRIALS

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.

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.

ME/CFS & Long COVID

Emerge Australia has created the AusME Registry and BioBank for people aged 12 and over who have ME/CFS or long COVID.

Many in the HCTDs community also have a diagnosis of ME/CFS or long COVID, if this applies to you – you can find out more by following this link.

 

 

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.