Research

Opportunities to be involved in Fragile X research in Australia

1.   Fragile X Care | Adults & Ageing Research Study – an initiative of Fragile X Association of Australia in collaboration with Centre for Disability Studies.  A survey for Family Members and a survey for Support team members  are open to the end of July 2024.   For more information click here 

2.   RECONNECT clinical trial – evaluating the efficacy of a topical gel in helping with Fragile X-associated behaviours
See below.

3.   International Fragile X Premutation Registry – enrolling in the Registry for potential involvement in research associated with the Fragile X premutation. See below.


RESEARCH STUDY: FRAGILE X SYNDROME

Children aged 3 to 22 years who are experiencing Fragile X syndrome-associated behavioural issues may be eligible to participate in a clinical trial in Australia. The RECONNECT study is seeking to evaluate the efficacy of a topical gel developed by Zynerba Pharmaceuticals in helping with the Fragile X-associated behaviours.

The study remains open to participants through to the end of 2024. 

The study is being conducted at a number of sites in countries including the United Kingdom, the United States and Australia. The Australian study sites are:

Adelaide
Flinders University, Health Data and Clinical Trials
Flinders Medical Centre
Bedford Park SA 5042
Phone +0468 566 663
Study Contact: Rupali Saikia rupali.saikia@flinders.edu.au

Brisbane
Queensland Children’s Hospital
62 Graham St
South Brisbane QLD 4101
Phone +61 7 3069 7457
Study Contact: Ellen Taylor Ellen.Taylor@health.qld.gov.au

Melbourne
Genetic Clinics Australia
263 Glen Eira Rd
Caulfield North VIC 3161
Phone +61 3 9528 1910
Study Contact: Melanie van Buuren travel@travelclinic.com.au

Sydney
The Children’s Hospital at Westmead
Cnr Hawkesbury Rd & Hainsworth St
Westmead NSW 2145
Phone +61 2 9845 0336
Study Contact: Joanne Booth Joanne.Booth@health.nsw.gov.au

Where participants live elsewhere in Australia,  Zynerba Pharmaceuticals  may reimburse some cost of travel.

To learn more:    fragilexhelp.com.au

Page updated 26 February 2024


BUILDING KNOWLEDGE ON THE FRAGILE X PREMUTATION

The online International Fragile X Premutation Registry has been created to encourage research on the Fragile X premutation and ultimately lead to better care, and possible treatments, for females and males whose health is impacted by the premutation. The goal is to build knowledge about the Fragile X premutation. The Registry is a contact list stored in a secure online database.

The Registry was created by clinicians, researchers, family representatives and groups from around the world who partnered with the National Fragile X Foundation (US) and the UC Davis MIND Institute in California. The Registry team is led by Dr David Hessl of the UC Davis Mind Institute, and National Fragile X Foundation (US) representatives Robert Miller and Hilary Rosselot Fragile X Association of Australia is pleased to be a foundation partner in this important initiative, with our Board member Karen Lipworth part of the Registry team.

Who is invited to join the Registry? Female and male Fragile X premutation carriers from all around the world, and who are 18 years or over, are invited to join the Registry by enrolling online.

What’s involved? People who join the registry complete a survey to provide their contact, demographic, and basic medical details related to the Fragile X premutation. The data is stored in a secure online database.

Join the Registry

As a participant, you will receive annual updates about research developments in this field, and you may also be contacted by the IFXPM Registry team about research studies you may be eligible to participate in, including future treatment studies. Researchers from all around the world, including Australia, will have the opportunity to submit details of their Fragile X premutation study to the IFXPR Advisory Committee for review. Where a study is approved for distribution, the IFXPR team will email a recruitment flyer to eligible participants.

How will the Registry help the Fragile X community? A registry that includes a large and diverse group of individuals with the Fragile X premutation, as well as family members without the premutation, will greatly facilitate research, including future treatment and intervention studies. Note that research is not restricted to medications, and includes any interventions that could positively impact quality of life. Participants may leave the Registry at any time should they no longer wish to be contacted about Fragile X premutation research participation opportunities and developments.

More information about the Registry, including Frequently Asked Questions and bios of the Registry Team, is on the National Fragile X Foundation website.

How to join the Registry? Enrolment in the Registry is done online, and it should take around 30 minutes to answer the enrolment survey questions.

Join the Registry



 

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Survey for parents / carers of adults with Fragile X syndrome

FRAGILE X | ADULTS & AGEING. We're undertaking the first Australian study on the support needs, health & wellbeing of ADULTS with Fragile X syndrome. Our goal is to enhance quality of life for adults with Fragile X syndrome as they age. We invite parents or carers to participate in our SURVEY. The survey has questions about: 1. GENERAL HEALTH AND WELLBEING of the adult with Fragile X syndrome. 2. EFFECTIVENESS OF EXISTING SUPPORTS for the adult with Fragile X syndrome as they age. 3. FUTURE PLANNING concerns of families & carers who provide support 4. ANY GAPS IN SUPPORTS OR SERVICES which may impede best outcomes in care. From the information contributed through the Survey we will develop training modules for frontline carers and tools for advocacy. The Survey can be completed ONLINE, in PAPER FORM, or by PHONE. Contact us for more information - support@fragilex.org.au or 1300 394 636

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