Fragile X Syndrome?
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity – National Fragile X Foundation
The Greenwood Genetic Center (GGC) is part of the National Fragile X Clinical and Research Consortium (FXCRC), which is funded by the National Fragile X Foundation and the US Centers for Disease Control and Prevention.
Clinical Care
- The Greenwood Genetic Center’s Fragile X syndrome (FXS) clinic is directed by Carrie Buchanan, MD and serves both pediatric and adult patients with FXS and Fragile X Premutation-Associated Conditions (FXPAC), including Fragile X-Associated Neuropsychiatric Disorders (FXAND).
- The FXS clinic offers consultations with a developmental-behavioral pediatrician and a genetic counselor. Genetics and clinical psychology services are also available.
- GGC’s FXS clinic can also assist with referrals to local medical specialists including behavioral and therapy services. Genetic testing is also available through GGC’s Molecular Diagnostic Laboratory.
- Clinic visits and research study enrollment are performed in person at GGC’s Greenville office. Travel reimbursement to Greenville is available through the NFXF and the Fly with Me Fund. Services may also be available via telemedicine.
Research
- FORWARD-MARCH: GGC is a site of the CDC-funded FORWARD-MARCH (Fragile X Online Registry With Accessible Research Database Multiple Assessments for Research Characterization) study, a multisite observational natural history study affiliated with the FXCRC. FORWARD-MARCH includes multiple assessments to characterize behavioral, adaptive, and cognitive function to further improve understanding of the natural history of FXS. It also acts as a research hub to connect patients to current projects.
- GGC is one of 3 collaborating sites assessing the relationship between hypermobility-related disorders and Fragile X premutation status. We are currently enrolling women with a Fragile X premutation in this single-visit, observational study.
Clinical Trials:
- GGC is one of 24 clinical sites for RECONNECT, a randomized, double-blind, placebo-controlled, multiple-center study, to assess the efficacy and safety of ZYN002, a pharmaceutically manufactured cannabidiol, formulated as a clear gel that can be applied to the skin, in children and adolescents with FXS. This is an 18-week trial currently enrolling children aged three through 17 years.
- GGC is one of 15 clinical sites for a randomized, double-blind, placebo-controlled, multi-center study, to assess the efficacy and safety of BPN14770, a phosphodiesterase inhibitor, in male adolescents (aged 12 to <18 years) with FXS. This is a 13-week trial.
Study enrollment date is pending.
