The Changing Future for Patients With Rett Syndrome and Their Families: Early Diagnosis and Emerging Therapies to Reduce the Burdens of Disease*

Date/Time: Sunday, September 10, 2023 - 6:00 AM – 7:00 AM
Track: Satellite Symposia
Room: Salons C-D (5th Floor)
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The faculty experts will discuss Rett syndrome (RTT) and provide strategies for timely diagnosis and application of the recent consensus guidelines for the multidisciplinary management for RTT, as well as discuss the most up-to-date evidence on novel and emerging therapies targeting MECP2 gene function and practical perspectives in decision-making for patients in daily practice. The program will include a short overview of the epidemiology of RTT, including the patient burden and the need for safe, efficacious treatments; an outline of practice and healthcare gaps, including delayed diagnosis/misdiagnosis; and address the challenges of formulating individualized plans while helping families access support and resources, emphasizing the importance of early initiation of multidisciplinary therapies and appropriate targeted treatments.

The diagnostic portion of the symposium will provide an overview of the four stages of RTT and how the stages typically manifest; challenges in diagnosing RTT (eg, subtlety of initial presentation); conditions in the differential diagnosis (eg, autism, cerebral palsy, Angelman syndrome, neuronal ceroid lipofuscinosis, and nonspecific developmental delay); and diagnostic criteria for classic and atypical RTT. The faculty will also present best practices in diagnostic protocols, including application of the revised diagnostic criteria that includes consideration of main, supportive, and exclusion criteria; testing for MECP2, including clinical decision-making in the absence of the MECP2 mutation; and use of supportive criteria in the case of atypical RTT. Through a case presentation, they will provide examples of common roadblocks to timely diagnosis and how these roadblocks can be avoided.

The multidisciplinary management portion of the symposium will draw from the 2020 consensus guidelines for the management of RTT, as well as address the role of care and assessments from clinicians in fields such as gastroenterology, nutrition, psychology, sleep and pain medicine, orthopedics and rehabilitation, cardiology, pulmonology/respiratory therapy, endocrinology, urology, in addition to neurology. They will present special concerns (eg, anesthesia needs, risk of injury from fall, and educational considerations) and what the guidelines suggest about anticipating and responding to patients’ evolving needs over time, again using one or more illustrative cases.

The final portion of the symposium will address targeting the MECP2 mutation as a treatment strategy, beginning with the current understanding of MECP2 mutations as the primary causative factor in RTT, explaining the affected downstream targets and their influence on synaptic function and resulting neurologic deficits. A 3D animation will depict the effects of the mutation on synaptic function. The faculty will also review new and emerging treatments (eg, trofinetide, blarcamesine, ketamine, and dextromethorphan), looking at MOA and downstream targets of each, current approval status, trial designs, available data, and potential impact on patient outcomes. They will also address the forthcoming studies of gene therapies for RTT before discussing another case and concluding with a summary and Q&A.

Co-Chair & Speaker:

Jeffrey L. Neul, MD, PhD 
Director, Vanderbilt Kennedy Center

Co-Chair & Speaker:

Alan Percy, MD 
Professor of Pediatrics, Neurology, Neurobiology, Genetics, and Psychology
Division of Pediatric Neurology
The University of Alabama at Birmingham