Fragile X Clinical and Research Consortium Registry and Database Study

Study ID
STU 102012-038

Cancer Related
No

Healthy Volunteers
No

Study Sites

Contact
Sally Redden
214-456-0650
sally.redden@childrens.com

Principal Investigator
Patricia Evans

Summary

individuals who have been diagnosed with a full fragile X mutation (FXS) and are between the ages of birth through 24 years of age will be asked if they would like to sign the consent and fill out forms in order to take part in the both Fragile X Clinical and Research Registry and Database. individuals who have a family member who has been diagnosed with a fragile X mutation or does not have a mutation are also eligible to sign the consent and fill out the intake form to participate in the Registry.

By signing the consent forms, subjects agree to allow people involved in this Fragile X Clinical and Research Consortium study to have access to the subject's clinical records, on a continual basis, so that updated, de-identified, clinical information about the subject or the subjects child can be sent confidentially, to a centralized repository.

The subjects will continue to receive medical care based on the clinical recommendation of his/her pediatric neurology physician. Patients will not have any additional tests or receive any additional drugs as part of research. The physician will keep a record of the history, physical examination, tests, any medications given, and response to treatment. The accumulated data will be de-indentified and entered into the on-line Fragile X SWiM Database. Data from 500 subjects are expected to be collected study-wide.

Participant Eligibility

-Individuals who have been diagnosed with a full fragile X mutation (FXS)
-Are between the ages of birth through 24 years of age
-Fully executed informed consent form