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.
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.
Enrolment closed: Current study: Seeking parents’ thoughts on new genetic tests in development
Posted: 10 August 2021
Dr Erin Turbitt is a social science researcher at the University of Technology Sydney.
Erin’s work focuses on how parents make decisions on behalf of their child. She previously led a project in the United States (with the National Fragile X Foundation) about families’ priorities for enrolling in Fragile X clinical drug trials.
Erin is leading a new study with researchers at the Murdoch Children’s Research Institute. In her study, she will be interviewing parents to find out what they think about new genetic tests in development. These tests may give families more detailed information about their child’s condition. For example, the information from the test could include whether a child may be more or less severely affected when compared to the average child with that same condition.
Erin needs parents to participate in an interview study about new genetic tests and she hopes that you are able to help.
Who is doing this research and why?
Researchers at the Murdoch Children’s Research Institute in Melbourne and the University of Technology Sydney.
Who can participate?
If your child has been diagnosed with a genetic developmental condition (this includes conditions such as Fragile X Syndrome, Angelman Syndrome, and Prader Willi Syndrome) Erin wants to hear from you. Your experiences and opinions as parents of a child with a genetic condition are highly valued.
What will happen in the study?
You will participate in your choice of a telephone, virtual (via Zoom), or email interview which will take approximately 30 minutes to complete. You will receive a $50 gift card to thank you for your time.
What should I do if I am interested?