GGC Involved in First FDA-Approved Drug for Rett Syndrome


Physician wearing mask interacts with young girlThe Greenwood Genetic Center (GGC) participated in recent clinical trials for the first ever FDA-approved medication specifically for patients with Rett syndrome.

Acadia Pharmaceutical’s DAYBUE™ (trofinetide) was approved by the FDA in March for the treatment of Rett syndrome in adult and pediatric patients two years and older. It is the first and only drug approved for the treatment of Rett syndrome, a rare genetic neurodevelopmental disorder that affects 6,000-9,000 patients in the US.

GGC enrolled seven patients with Rett syndrome in the recent Phase 3 clinical trial which demonstrated statistically significant improvement in patients who took trofinetide compared to those on a placebo. GGC also participated in earlier phases of study on this drug.

“Rett syndrome causes significant and lifelong challenges including developmental regression with the loss of communications skills and purposeful hand use, as well as behavioral and physical symptoms that impact breathing, sleep, growth, and mobility,” said Steve Skinner, MD, Director of GGC and study investigator. “After decades of clinical research and drug development, we now have something to offer these patients and families that has the potential to improve many of the symptoms of Rett syndrome.”

GGC, a Rett Syndrome Center of Excellence, has been active in the study and care of patients with Rett syndrome for over two decades, including the National Institutes of Health-sponsored natural history study and several clinical trial projects. The Center also holds a Rett syndrome clinic at Shriners Hospital for Children in Greenville.

“The approval of DAYBUE represents a long-awaited development for the treatment of Rett syndrome,” said Fran Annese, LMSW, Clinical Trials Coordinator at GGC. “We are excited and hopeful for the benefits this will have for our families and are grateful for those who joined the clinical trial and helped bring this drug to market.”

DAYBUE is expected to be available in the US by the end of April, 2023.

Photo: Dr. Skinner interacts with a patient enrolled in the trofinetide clinical trial at GGC


About Rett Syndrome

Rett syndrome is a rare, complex, neurodevelopmental disorder that affects approximately 6,000 to 9,000 patients in the US. A child with Rett syndrome exhibits an early period of apparently normal development until six to 18 months, when their skills seem to slow down or stagnate. This is typically followed by a duration of regression when the child loses acquired communication skills and purposeful hand use. Rett syndrome is typically caused by a genetic mutation on the MECP2 gene. Symptoms of Rett syndrome may also include development of hand stereotypies, such as hand wringing and clapping, and gait abnormalities.

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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