Fragile X Syndrome Program

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

  • FORWARD: 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.
  • Clinical Trials: 
    • GGC is one of 20 clinical sites
      for CONNECT-FX (Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X) is a multi-national, randomized, double-blind, placebo-controlled, 14-week trial to assess the efficacy and safety of an investigational CBD gel (ZYN002)
      in children ages three through 17 with full mutation FXS. CONNECT-FX is a clinical study evaluating transdermally delivered ZYN002 as a potential treatment for some common behavioral symptoms associated with FXS.

Contact Us for More Information

fragilex@ggc.org

Rett Syndrome Program

What is Rett Syndrome?

Through clinical care, research, and advocacy, the Rett Syndrome and Related Disorders Program of GGC’s Center for Translational Research is dedicated to the benefit of all individuals and families impacted by these conditions.

GGC is a proud recipient of the Rettsyndrome.org designation as a Clinical Research Center of Excellence!

Clinical Care

  • Rett Syndrome Pediatric Multidisciplinary Clinic – held in conjunction with the Greenville Health System and Shriners Hospital for Children in Greenville, SC. Includes genetics, neurology, developmental pediatrics, physical therapy,
    and occupational therapy. Contact: Kimberly Ivery, LPN at (864) 240-3146 or kivery@shrinet.org
  • Rett Syndrome Adult Clinic – Appointments available at the Greenwood and Greenville offices.
  • Diagnostic Testing – GGC was one of the first labs to offer testing for MECP2, the gene
    associated with Rett syndrome. The laboratory also offers testing for other genes for related conditions including FOXG1, CDKL5, as well as a Rett/Angelman NGS panel.

Research

Advocacy

  • Development of research agendas, white papers and health economics documents
  • Leadership on numerous key panels and committees (pdf)

Download our Rett program brochure (pdf)

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky. The next thing I know, our ...

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