Research

This is an exciting time for research in the Fragile X field. Many studies utilising breakthroughs from the past ten years are now in human trials. Improvements in treatments for FXTAS and FXPOI are also being researched.

We provide information on new research and clinical trials to members of the Association through our quarterly newsletter and there are some links to research specific sites below:

Screening

The Fragile X Association of Australia strongly supports fragile X genetic testing and screening for families for the purpose of identifying people:

  • with fragile x genetic related disorders:
  • at risk of developing fragile x related disorders,  and/or
  • at risk of having a child with a fragile x related disorder.

Testing and screening approaches should be based on comprehensive research and families provided with appropriate counselling and clinical management.

Clinical Trials in NSW and Victoria:

The Child Development Unit at the Children’s Hospital in Westmead, NSW and the Murdoch Childrens Research Institute in Parkville, Victoria are participating in a clinical trial testing a new treatment for Fragile X syndrome in adolescents. The treatment is a capsule and the medication is taken twice daily for up to 16 weeks.

To be eligible to participate in the trial, patients must fit the following criteria:

  • Be aged 12-17 in otherwise good general health.
  • Have a previous diagnosis of Fragile X based on genetic testing (full mutation)
  • Have a caregiver who spends on average at least 6 hours a day with the study participant and is willing to supervise treatment, attend all study visits and assist with study assessments
  • Have a documented intellectual disability (IQ score less than 70)

The study lasts for a total of 20 weeks and includes a 3-week screening period, 16 weeks during which patients will receive study drug and a one week follow up. All patients will receive a placebo at some stage during the study.

If you would like more details on the trial, please contact Dr Natalie Silove at the Child Development Unit at Westmead, on 02 9845 2829.  Or Dr Eppie Yiu on 8341 6367, or Ms Geneieve Tai 8341 6374 at the Murdoch Childrens Research Institute.

If you would like more information on adult trials please contact the following:

NSW

Hunter Genetics Waratah, NSW Contact: Jackie Boyle & Carolyn Rogers Tel (02) 4985 3136

Royal Rehabilitation Centre Ryde, NSW Contact: Jackie Boyle & Carolyn Rogers Tel (02) 4985 3136

Victoria

Fragile X Alliance Caulfield North, VIC Contact: Melanie Van Buuren Tel (03) 9528 1910