Rett Syndrome and Related Disorders

Five member sof GGC's Rett sydnrome team surrounding a girl with Rett syndrome

GGC’s Rett Syndrome and Related Disorders Program is dedicated to supporting all individuals and families impacted by these conditions through clinical care, research, and advocacy.

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). GGC works closely with IRSF to provide support and advocacy for all residents of SC 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 in conjunction with the Shriners Hospital for Children and Prisma Health-Upstate in Greenville, SC. Services include genetics, genetic counseling, neurology, developmental pediatrics, physical therapy, occupational therapy, social work, and dietary management.  Age range:  birth-21 years of age.
  • 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, fran@ggc.org  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

  • Defining Anxiety in Rett Syndrome
  • 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

Past Rett Syndrome Studies

  • 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, fran@ggc.org, 864-941-8160.

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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