Pediatric Clinic for Rett Syndrome Attracts Patients for Multispecialty Care and Clinical Trials – Washington University School of Medicine in St. Louis

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Only such a clinic hundreds of miles away

Courtesy of the Waggenspack family

Families who have a child with Rett syndrome, a rare neurological disorder that almost exclusively affects women, often travel hundreds of miles to the Rett Spectrum Clinic in St. Louis – a collaboration between Washington University School of Medicine and St. Louis Children’s Hospital – for multi-specialty care and access to innovative clinical trials.

That includes Erica and Chad Waggenspack of Baton Rouge, Louisiana, whose youngest daughter, 4-year-old Kerrigan, was diagnosed with Rett when she was 2 years old. The condition affects brain development, altering all aspects of a child’s life. The family travels to St. Louis at least twice a year to be seen by a care team consisting of pediatric neurologists, dietitians, speech and enhanced communication specialists, occupational therapists and physical therapists – all in a single four to five – hour tour. While most of the clinic’s patients come from Missouri, Illinois, Arkansas, Kansas, and Nebraska, others come from as far away as Florida, Washington, Arizona, and even India. India.

Rett syndrome is caused by a genetic mutation on the X chromosome and affects approximately one in 10,000 women and even fewer men. Children born with the disease appear healthy as infants, but often miss important milestones such as sitting up or crawling. Over time, they lose the ability to speak, walk, eat, and may develop breathing difficulties. There is no remedy. Specialized care such as that provided at the WashU Rett Spectrum Clinic is a lifeline for families, and many choose to participate in clinical trials.

In fact, the first potential drug treatment for Rett syndrome was given priority review by the Food and Drug Administration (FDA), and doctors from the University of Washington at the Rett Spectrum Clinic helped get it there. Phase 3 clinical trial results show that the drug – trofinetide – improved behavior and communication, based on objective measures. The drug is designed to reduce neuroinflammation and support nervous system connections. The WashU Rett Spectrum Clinic at St. Louis Children’s Hospital was a site for the trial.

“This is a pivotal moment in Rett syndrome,” said Robin C. Ryther, MD, PhD, associate professor of neurology at the University of Washington and director of the clinic. “The drug is not a panacea, but the results of the trial showed a statistically significant improvement in their ability to communicate, behavior and their general well-being. Anecdotally, the families felt that made a difference.

Ryther and Judith L. Weisenberg, MD, associate professor of neurology, opened the clinic in 2015. At the time, there were only three in the country. Now there are more than a dozen in the United States, but the WashU Clinic is known for its multidisciplinary specialty care.

“Rett syndrome is a whole-body disorder,” Ryther said. “While disease-causing genetic mutations initially alter brain development, Rett affects all systems throughout the body. So patients really need comprehensive care from specialists on the team who understand the disease and how it affects all aspects of a child’s life.

Weisenberg added, “When a patient comes here, the idea is to ensure that they receive comprehensive care to maximize their health, development and ability to function on a day-to-day basis.”

A key feature of the Rett Clinic is its participation in clinical trials aimed at understanding the trajectory of symptoms over time – most patients live into adulthood – and evaluating experimental drugs as potential therapies. .

Observational studies help determine symptom patterns and slowing ability over time. This is the essential basis for assessing whether experimental drugs being evaluated in therapeutic trials are capable of modifying the symptoms of the disorder. The Rett Spectrum Clinic and its patients have been involved in several therapeutic drug trials, but the team is most excited about the trofinetide trials. If the FDA approves trofinetide — a decision is expected in the spring — it will be the first drug treatment available for Rett syndrome.

The double-blind, randomized, placebo-controlled Phase 3 trial, sponsored by Acadia Pharmaceuticals, involved 187 girls and women, ages 5 to 20, at 21 study sites. Based on the promising data from the trial, the drug was made available through an open-label extension study to all patients enrolled in the Phase 3 trial and to girls from the age of 2 years. The extension study was also designed to examine safety and tolerability in this younger age group and to provide information to guide dosing.

The Rett Spectrum Clinic in St. Louis enrolled 15 participants in the trofinetide trials. Kerrigan, the 4-year-old spitfire from Baton Rouge, has been enrolled in the open-label extension study. Her mother, Erica, said she “just thrived on drugs. We found that she says more words. She has a slightly more diversified vocabulary. While taking the medicine, she could also sometimes walk to the bathroom when she needed to go potty. It’s by no means a miracle drug or cure, but it’s a step in the right direction.

Waggenspack said she and her husband brought Kerrigan to the University of Washington’s Rett Spectrum Clinic because they “didn’t want to just be a number.” We wanted someone who would genuinely care about our family and Kerrigan to get the best care, and we definitely found that in St. Louis.

Another strength of the clinic is that it helps educate other doctors and health care providers about the disease, as well as teachers and family members so that children can live as normal a life as possible, given Rett’s challenges. The clinic team also reaches out to patient schools and local care teams. “Our goal is to help the local care teams – they really are the everyday care teams – to believe in these children and to help them take the next steps and experience life as much as possible,” said said Ryther.

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