St. Jude Expands Kabuki Syndrome Care and Research: Now Accepting Patients

St. Jude Now Offering Appointments with Kabuki Syndrome Expert, Dr. Brittany Simpson as Part of Expanded Focus on Rare Neurodevelopmental Disorders

St. Jude Children’s Research Hospital in Memphis, Tennessee, is now recruiting individuals with Kabuki syndrome up to the age of 21 to participate in a unique, multi-disciplinary clinic that combines expert clinical care with research aimed at improving outcomes for individuals with Kabuki syndrome.

What to Expect: Two Days with Multiple Experts

Participants will meet with Dr. Brittany Simpson, a leading expert in Kabuki syndrome, along with a team of specialists dedicated to understanding and improving care for those with neurodevelopmental conditions. Over the course of a two-day appointment, patients and their families will: 

• consult with experts in neurodevelopment, neurology, genetics, and physical therapy,
• complete a neuropsychological assessment, 
• share blood and urine samples, and 
• visit a gait clinic—a specialized facility where walking patterns and movement difficulties are assessed and analyzed. 

St. Jude will cover the costs related to travel, lodging, and meals. The first step to participating is completing this interest form.

Benefits of Participation

This comprehensive evaluation can provide valuable insights for personalized healthcare plans. In addition to these evaluations, participants will receive a copy of their neuropsychological testing report, which can help shape educational and therapeutic strategies. 

This research-driven initiative not only benefits participating families but also contributes to preparing for Kabuki syndrome clinical trials through the development of outcome measures and biomarkers. Outcome measures and biomarkers can measure the effects of potential treatments in clinical trials. Multiple treatments are in development, but there are currently no Kabuki syndrome-specific tools that can measure their potential impact. Like the Kabuki Syndrome Foundation’s KSOC, this opportunity at St. Jude pairs clinical excellence and the ability to support treatment-focused research that brings our community closer to treatments.

Meet Dr. Simpson

Dr. Brittany Simpson is now an Assistant Professor of Clinical Pediatrics and Genetics at Le Bonheur Children’s Hospital and a key member of the Center for Experimental Neurotherapeutics at St. Jude. Previously, she co-founded and directed the Epigenetic Syndromes Clinic at Cincinnati Children’s Hospital Medical Center, where she saw many patients with Kabuki syndrome. Her extensive research contributions, including serving as Principal Investigator on multiple studies, have significantly advanced the understanding and management of Kabuki syndrome and related rare diseases.

How to Get Involved

This opportunity at St. Jude represents a major step forward for Kabuki syndrome research and care. If you are interested in participating, please complete this interest form to be connected with the research team. At this time, this opportunity is only open to United States residents. International families are encouraged to explore KSOC and other research opportunities.