Only clinics like that for hundreds of miles
Four-year-old Kerrigan Waggenspak of Baton Rouge, Louisiana, cheers with her sister, Shay Rodriguez. Kerrigan has Rett syndrome, a condition that affects brain development. Her family goes to the University of Washington School of Medicine’s Rhett Her Spectrum Her Clinic and St. Louis Children’s Hospital to allow her team of different specialties of care to see Kerrigan.
Families with children with Rett syndrome, a rare neurological disorder that mostly affects only women, often travel hundreds of miles to the Rett Spectrum Clinic in St. Louis, thanks to a partnership between the University of Washington School of Medicine and St. Louis Children’s Hospital. I have. Access to multispecialty care and innovative clinical trials.
This includes Erica and Chad Waggenspak from Baton Rouge, Louisiana. Her youngest daughter, her 4-year-old Kerrigan, was diagnosed with Rhett when she was 2 years old. This condition affects brain development and changes every aspect of a child’s life. Her family members visit St. Louis at least twice a year to see her team of care, including a pediatric neurologist, nutritionist, speech therapist, augmented communication specialist, occupational therapist, and physical therapist. to visit – Time visit. Most of the clinic’s patients come from Missouri, Illinois, Arkansas, Kansas, and Nebraska, but some come from as far away as Florida, Washington, Arizona, and even India.
Rett syndrome is caused by a genetic mutation on the X chromosome and affects approximately 1 in 10,000 women and even fewer men. Children born with this condition appear healthy as infants, but often miss major milestones such as sitting and crawling. , may lose the ability to eat and develop difficulty breathing. There is no cure. The specialized care provided at 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 granted priority review by the Food and Drug Administration (FDA), and the University of Washington physicians at the Rett Spectrum Clinic were instrumental in making it happen. Results from a phase 3 clinical trial show that the drug – trophinetide – improved behavior and communication based on objective measurements. This drug is designed to reduce neuroinflammation and support nervous system connectivity. The WashU Rett Spectrum Clinic at St. Louis Children’s Hospital was the site of the study.
“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. “This drug is not a panacea, but the results of the trial showed statistically significant improvements in communication skills, behavior, and overall health. Anecdotally, families said it made a difference. I felt that.”
Ryther and Judith L. Weisenberg, MD, associate professor of neurology, opened the clinic in 2015. At that time there were only three of him in the country. With more than 10 clinics nationwide today, WashU Clinics are known for their multidisciplinary specialty care.
“Rett syndrome is a systemic disease,” said Ryther. “While the genetic mutations that cause this condition initially alter brain development, Rhett affects all systems throughout the body. We really need comprehensive care from a team specialist who understands how it affects us.”
Weisenberg adds:
A key feature of the Rett Clinic is its involvement in clinical trials aimed at understanding the course of symptoms over time (most patients live into adulthood) and clinical trials as potential treatments. drug evaluation.
Observational studies help determine patterns of symptoms and declines in ability over time. is an important foundation of The Rett Spectrum Clinic and its patients have participated in several therapeutic trials, but the team is most excited about the trophinetide trial. If the FDA approves trophinetide (a decision is expected in the spring), it will be the first drug treatment available for Rett syndrome.
A Phase 3, double-blind, randomized, placebo-controlled trial sponsored by Acadia Pharmaceuticals enrolled 187 girls and women aged 5 to 20 at 21 study sites. Based on the encouraging data from the trial, the drug is now available through an open-label extension study in all patients enrolled in a Phase 3 trial and her 2-year-old girl. rice field. This extension study was also designed to examine safety and tolerability. Provide information to guide medication in this young age group.
The Rett Spectrum Clinic in St. Louis enrolled 15 participants in the trophinetide trial. Button Kerrigan, his four-year-old Spitfire from Rouge, was enrolled in an open-label extension trial. Her mother, Erika, said she “just blossomed on drugs. We found she speaks more words. She has a slightly more diverse vocabulary. While I was there, she was able to go to the bathroom occasionally when she needed to.
Waggenspak said she and her husband brought Kerrigan to the University of Washington’s Rhett Spectrum Clinic. We wanted someone who actually cared about our family and Kerrigan receiving the best possible care, and we really found it in St. Louis.
Another strength of the clinic is that it helps educate other doctors, providers, teachers and families about the disease. This will allow the children to lead as normal a life as possible given Rhett’s difficulties. Clinic teams also reach out to patients’ schools and community care teams. “Our goal is to help community care teams. “It’s about helping people do what they do best,” says Ryther.
