New FDA-Approved Treatment for Rett Syndrome Spurs Calls for Education, Innovation

In clinical proceedings paper, neurologists detail diagnosis challenges and the burden of living with the rare neurodevelopmental disorder

WASHINGTON, July 20, 2023 /PRNewswire/ -- The Clinical Neurological Society of America released a new expert-led clinical proceedings paper, "Rett Syndrome: A Devastating Neurodevelopmental Disorder." FDA approval of the first medication for Rett syndrome elevates the need for further education and innovation, the paper's authors explain.

The paper, authored by four neurologists, highlights the syndrome's clinical and genetic features, barriers to timely diagnosis and challenges facing patients and families. The paper also calls for earlier recognition and diagnosis of Rett syndrome, which can help parents identify the right providers, support groups and resources to help their child. In addition to treating patients with the newly approved medication, called trofinetide, clinicians may recommend that families focus on socialization, communication skills and physical activities to improve the quality of life for patients and their families.

Paper Authors
Jeffrey Neul, MD, PhD (clinical proceedings chair)
J. Richard Gunderman, MD
Laura Lehman, MD, MPH
Alan K. Percy, MD

About Rett Syndrome

Rett syndrome affects an estimated one in 10,000 females globally, causing intellectual impairment, gait abnormalities, repetitive hand movements, and loss of spoken language and fine motor skills. It is the second most common cause of intellectual disability after Down syndrome.

No cure is currently available, so treatment often focuses on relieving symptoms. But a new drug recently approved by the FDA and two new gene therapy programs provide some hope for people with Rett syndrome and their families.

Many families receive a Rett syndrome diagnosis only years after symptoms first emerge. Most pediatricians and family physicians do not have experience with Rett syndrome, the paper explains, and many mistake Rett syndrome symptoms for autism. Others take a "wait-and-see" approach.

Rett syndrome disrupts all aspects of daily life, including eating, hygiene and medical care. Parents must keep up with their child's constant needs. Treatment and care are generally quite expensive, and families may be forced to pay out of pocket, depending on their insurance coverage. A 2015 study found that the divorce rate among couples with a daughter with Rett syndrome was 9% higher than the rate of the general population, the paper notes.

STATEMENT FROM JEFFERY NEUL, MD, PHD, CHAIR FOR CLINICAL PROCEEDINGS, CLINICAL NEUROLOGICAL SOCIETY OF AMERICA: "Long-awaited medical innovation is changing what the future could look like for Rett syndrome patients and their families. Physicians are eager for continued innovation but also for widespread education so that more providers know what this disease looks like and how to advise families who are dealing with it."

Learn more by reading "Rett Syndrome: A Devastating Neurodevelopmental Disorder."

The Clinical Neurological Society of America, a non-profit 501(c)(6), is a nationwide organization of neurology clinicians with a mission to improve clinical practice and patient care through education. 

SOURCE Clinical Neurological Society of America