Fragile X Biobank Study

The study plans to learn more about fragile X associated disorders (FXAD). Researchers and clinicians know very little about what causes the differences in signs and symptoms among individuals with a fragile X mutation. The primary aim of the program is to contribute biological samples and linked de-identified clinical data from individuals in families with FXAD. These shared materials will facilitate molecular and biological studies with the goal to accelerate the understanding of the etiology and pathophysiology of FMR1 mutations and to help discovery of new therapeutics.

Purpose of the study

The purpose of the study is to create a bank of blood or saliva samples (biobank) that are linked to that person’s clinical information. Clinical information includes things like the person’s symptoms related to their condition, in this case FXAD. This information would be de-identified, which means that your name, birth date and anything else that can personally identify you is removed from your sample. Scientists hope to use the samples in order to learn more about fragile X-associated disorders and how to treat them. Blood and saliva samples can help:

1. Lead to a better understanding of the what causes the symptoms of FXAD
2. Develop new diagnostic tests to predict who may be at high risk for severe symptoms
3. Identify new treatments and new ways to prevent these disorders.

In order to do this research, this program will gather the following information and materials from each participating person:

• Samples, such as blood for DNA (the molecule that carries genetic information), serum, plasma or cell lines
• Clinical and neuropsychologic data, including medical, diagnostic and family history information

Research details

The study includes is a one-time blood draw from individuals with fragile X syndrome that will be saved in a biobank. There are no additional forms or visits. Once sample are collected from subjects, they will be sent to the University of California Davis for placement in the biobank. Scientists will analyze these samples to help learn more about fragile X associated disorders. If you do not want to participate, or if you want to withdraw from participation at a later date, it will not affect your medical care in any way and you can still be a patient in our clinic.

Participants who are eligible to participate at our site are those who have participated in the FORWARD and CDC-Component C study. These studies are for individuals with Fragile X syndrome full mutation.

You will receive a $25 gift card to compensate you for your participation in this program. You will not receive any money or other compensation for any new products that might be developed or sold from research that used your blood or tissue.

The local study site is Children's Hospital Colorado. Up to 1,000 people around the country will be in the study.

Contact us

Please email FragileXBioBank@childrenscolorado.org for more information.