The purpose of this NOFO is to conduct research to better characterize the natural history of fragile X syndrome (FXS) and meaningful outcome measures in order to improve the lives of children and adolescents with FXS with and without autism spectrum disorder (ASD).

The funding will support

credit:

enrollment and in-person standardized assessments of individuals aged 6 through 19 years with full-mutation FXS, which can include new and previously enrolled study participants of the Fragile X Online Registry with Accessible Research Database (FORWARD).

FORWARD is a national registry of patients enrolled in FXS specialty clinics who are part of the Fragile X Clinical and Research Consortium.

Data collection will include assessments to characterize the cognitive, behavioral, and adaptive skills, and other indicators of functioning of individuals with FXS.

Planned coordination of standardized in-person behavioral and functional assessments and follow-up telephone survey questionnaires with CDC’s Study to Explore Early Development (SEED) Follow-up Study (RFA-DD21-001) will facilitate comparison of health and functional outcomes for the FXS population with those for other related and frequently co-occurring conditions such as ASD and developmental delay.

Applicants may propose recruiting study participants from an individual FORWARD clinic, or recruiting from a group of FORWARD clinics with which the principal investigator has documented data sharing and collaborative agreements.