What is 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 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) clinics serve both pediatric and adult patients with FXS.
  • FXS clinics involve a clinical geneticist, genetic counselor, and developmental behavioral pediatrician.
  • GGC’s FXS clinic can also assist with referrals to local medical specialists and behavioral and therapy services. Genetic testing is also available through GGC’s Molecular Diagnostic Laboratory.
  • The Center’s Greenville, SC office is the clinical home for the FXS clinic. Travel reimbursement to Greenville is available through the NFXF and the Fly with Me Fund. Clinic visits and research study enrollment in FORWARD can also be performed at other GGC locations and may include telemedicine and telegenetics.

Research

  • Fragile X Registry: GGC is a site of FORWARD (Fragile X Online Registry With Accessible Research Database), a multisite observational natural history study affiliated with the FXCRC. FORWARD acts as a research hub to connect patients to current projects. Note: The FORWARD registry is temporarily closed. We anticipate the registry will reopen in the summer of 2022.
  • Parent Survey: Megan Michalski, a genetic counseling student at the University of South Carolina, is conducting a parent survey to assess the information provided to families at diagnosis. Parents of children with Fragile X syndrome who have been diagnosed within the past 10 years are invited to participate.
  • Clinical Trial: RECONNECT: GGC is currently enrolling patients for RECONNECT, a randomized, double-blind, placebo-controlled multiple-center, efficacy and safety study of ZYN002 administered as a transdermal gel to children and adolescents with Fragile X Syndrome. This is an 18-week trial to assess the efficacy and safety of an investigational CBD gel (ZYN002) in children ages 3-18 with full mutation FXS. RECONNECT is a clinical study evaluating transdermally delivered ZYN002 as a potential treatment for some common behavioral symptoms associated with FXS. Qualified subjects that complete the double-blind study will have the opportunity to roll over to the open label study.

Contact Us for More Information

fragilex@ggc.org

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noon...

In The News