Children's Hospital Colorado

The Fragile X Online Registry

Neuroscience | October 15, 2018
Diagnosis
Those with a personal diagnosis or family history of fragile X syndrome or a fragile X gene mutation
Age
Individuals ages 31 days to 99 years
COMIRB number
#08-0735
Compensation
No

This project will advance the core activities of the Fragile X Clinics and Research Consortium (FXCRC). The FXCRC is a collaborative endeavor initiated in 2006 by the National Fragile X Foundation (NFXF) to advance clinical practice and facilitate coordinated, collaborative multi-site research on fragile X syndrome (FXS). Since then, efforts to build the consortium and clinical database efforts have been funded by the CDC. The FXCRC currently consists of 26 clinics in the US with five additional US sites expected to establish clinics within the next three years. Goals of the consortium include:

  • The development of best practices in evaluation and treatment of FXS
  • Coordination of multi-institutional clinical research projects
  • Building a reliable, dynamic patient registry for clinical research and research recruitment

This COMIRB protocol establishes the process for professionals at Children's Hospital Colorado and University of Colorado Hospital who see patients with fragile X syndrome to recruit subjects for enrollment in the patient registry and data repository.

The local study site is Children's Colorado.

Purpose of the study

The purpose of this study is to create a database of medical information from people with FXS across the United States and Canada. This data will be used to develop guidelines for treating FXS, including recommendations for the medical, educational, behavioral and psychological evaluations and treatments of people with FXS. It will also be used to describe the population of families with a member affected by the fragile X mutation in a given community. Finally, it will be used as a registry for fragile X researchers to find people with fragile X and others who may wish to participate in future FXS studies.

Research details

You will be asked to fill out a short intake form (the FORWARD registry form), which will ask you some basic questions about yourself and let us know the types of research you might like to participate in if you are eligible.

If you have the full mutation or fragile X syndrome, you are eligible to participate in the FORWARD database. This means that in addition to the registry form, we will ask you to complete a report form related to your medical care, educational history, treatment history and other information. We will also ask you to complete three standardized behavior questionnaires. If you agree to be in this study, we will update the FORWARD database every year.

You will be enrolled in this study for as long as you receive care in the Denver Fragile X Clinic at Children's Colorado or University of Colorado Hospital.

You will not be paid for participating in this study. It will not cost you anything extra to be in the study.

Diagnosis

Those with a personal diagnosis or family history of fragile X syndrome or a fragile X gene mutation

Age

Individuals ages 31 days to 99 years

COMIRB/IRB Number

# 08-0735

Compensation

No

Contact

Please contact FORWARDstudy@childrenscolorado.org.

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