Clinical Studies

The Greenwood Genetic Center has a longstanding interest and expertise in Rett syndrome, a rare, genetic neurodevelopmental disorder that affects mainly females. GGC’s Rett syndrome program includes clinical care, diagnostic testing, research projects, and clinical trials.

GGC has been named a Rett Syndrome Center of Excellence by the International Rett Syndrome Foundation (IRSF). We were proud to be a clinical trial site for DAYBUE, the first and only FDA-approved drug for Rett syndrome.

GGC works closely with IRSF to provide support and advocacy for those impacted by Rett Syndrome. Each year, GGC and IRSF work with the SC governor’s office to proclaim October as Rett Syndrome Awareness Month in SC.

What is Rett syndrome? – Video by Alan Percy, MD

GGC’s Rett syndrome program – Video by Steve Skinner, MD and Carrie Buchanan, MD

Clinical Care

• Rett Syndrome Pediatric Multidisciplinary Clinic – held at Shriner’s Hospital for Children in Greenville, SC in conjunction with Prisma Health-Upstate. Services include genetics, genetic counseling, neurology, developmental pediatrics, physical therapy, occupational therapy, social work, and dietary management.  Age range:  birth-21 years of age.
  • GGC Contact: Fran Annese, LMSW, [email protected]  864-941-8160
  • Shriners Contact:  Morgan Smith, RN,  [email protected]  864-240-3137

• Rett Syndrome Genetic Clinic – appointments available at the Greenwood and Greenville offices of the Greenwood Genetic Center with a clinical geneticist, developmental-behavioral pediatrician, and certified genetic counselor.  Patients can be seen clinically and/or for research.
  • GGC Contact: Fran Annese, LMSW, [email protected]  864-941-8160
• 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.

Current Rett Syndrome Studies

• Rett Syndrome Global Registry

Past Rett Syndrome Studies

• A 40-Week, Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women with Rett Syndrome (ACADIA Pharmaceuticals Inc)
• An Open-Label Extension Study of Continuing Treatment with Trofinetide for Rett Syndrome (ACADIA Pharmaceuticals Inc)
• Defining Anxiety in Rett Syndrome
• Rett Syndrome, MECP2 Duplication Disorder, and Rett-Related Disorders Natural History Protocol (5211)
• Biobanking of Rett Syndrome, MECP2 Duplication Disorder, and Rett-Related Disorders Protocol (5213)
• Rett Natural History Study (5201)
• A Randomized, Double-blind, Placebo-controlled Dose-ranging Study of the Safety and Pharmacokinetics of Oral NNZ-2566 in Pediatric Rett Syndrome (Neuren Pharmaceuticals Ltd.)
• A Randomized, Double-Blind, Placebo-Controlled, Trial to Investigate the Efficacy and Safety of Cannabidiol Oral Solution in Patients with Rett Syndrome (GW Research Ltd)
• An Open-Label Extension Trial to Investigate the Long-Term Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients with Rett Syndrome (GW Research Ltd)
• A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Trofinetide for the Treatment of Girls and Women with Rett Syndrome (ACADIA Pharmaceuticals Inc)
• A Double-Blind, Randomized, Placebo-Controlled, Dose Titration Study of ANAVEX2-73 in Patients with Rett Syndrome

Rett Syndrome Research Opportunities

For more information about our research opportunities, please contact Fran Annese, [email protected], 864-941-8160.

 

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 (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.

Contact Us for More Information [email protected]