Participating in clinical studies allows those impacted by genetic disorders to help advance knowledge of their disorder which could lead to better diagnostic tests, new treatments, and an improved quality of life. Participating in clinical studies is a great way to become engaged with your medical community and help others on a similar journey.
These are the Greenwood Genetic Center (GGC) current clinical studies. If you’re interested in participating in or learning more about these programs, please contact the program coordinators listed below.
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.
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.
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. 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.
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.
GGC is one of 25 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. Enrollment for this study is complete.
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 9 to 45 years) with FXS. This is a 13-week trial.
The Greenwood Genetic Center (GGC) 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.
Current studies are available through the Rett Syndrome Global Registry.
What is folic acid?
Folic acid is a B vitamin. When you take folic acid before and early in pregnancy, it dramatically lowers the risk of birth defects of the brain and spine known as neural tube defects (NTDs).
Why should I take folic acid?
If you are of childbearing age and could possibly become pregnant, you should take folic acid. These birth defects occur very early in pregnancy, often before you know that you’re pregnant.
How can I make sure I’m getting the right amount of folic acid?
If you could become pregnant, you should take 4mg of folic acid every day to maximize the benefits.
Folic acid can be found in many types of foods such as green leafy vegetables, cereals, pasta, bread, beans, and orange juice. But it’s very difficult to get enough through diet alone! That’s why we recommend taking a daily multivitamin or prenatal vitamin, and additional folic acid supplements.
Talk to your doctor to learn more!
Does it really make a difference?
Yes! In 1991, South Carolina had a higher rate of NTDs than any other area in the country. Because more women are taking folic acid now, the rate has declined by a staggering 60%! This means that 70 babies are born healthy across our state each year who, 30 years ago, would have been born with one of these very serious and sometimes life-threatening birth defects.
How can I learn more?
For more information or to schedule a presentation about folic acid for your group, contact Jane Dean, RN at jane@ggc.org or 1-800-676-6332.
English Resources:
We’re happy to provide additional information should you be interested in taking part in any clinical studies. Please reach out directly to the contact person for the program of interest or use the web form.