Abstract Details

Title Patient Journey and Clinical Burden of Rett Syndrome in the United States

Topic Child Neurology and Developmental Neurology

Presentation(s) P11 - Poster Session 11 (11:45 AM-12:45 PM)

Poster/Presentation
Number 6-001

Background RTT is a rare neurodevelopmental disorder that causes developmental delay and physical disability, while mostly affecting females. To date, there is no cure for RTT and literature on the clinical burden among US patients is limited.

Objective To describe the patient journey and clinical burden of Rett syndrome (RTT) among female patients in the United States (US).

Design/Methods This retrospective cohort study identified eligible female patients with an International Classification of Diseases (10th edition) diagnosis code of RTT using medical claims from a large US administrative claims database (11/1/2016–10/31/2019). Patients with diagnosis codes for cerebrovascular disease or brain trauma were excluded. Clinical manifestations of RTT and treatment patterns were described following the first observed diagnosis of RTT. Proportions of patients with clinical manifestations, pharmacological, and supportive therapy use were described by age using panel plots.

Results The study included 5,940 female patients with RTT, with median (interquartile range) age of 17.0 (9–28) years. The most prevalent clinical manifestations observed were neurological disorders (72.8%), particularly epilepsy (52.1%), and gastrointestinal and nutritional disorders (41.9%), both of which were most prevalent during early childhood (age 1–3). Orthopedic disorders (34.6%) manifested during adolescence and into adulthood. Antiepileptic drugs (54.8%) and feeding assistance (37.9%) were the most common pharmacological agent and supportive therapy used, respectively. Peak antiepileptic use was observed at 26 years of age and sustained into later adulthood. Physical, speech-language, and occupational therapy use were most prevalent during early childhood (age 3–4), while feeding assistance was prominent during adolescence (age 12–17).

Conclusions Patients with RTT have substantial concomitant disease burden across their lifespan, as evidenced by high prevalence of clinical manifestations and reliance on pharmacological and supportive therapy. These findings suggest an unmet need for effective therapies to treat RTT, with the potential to reduce overall burden and facilitate long-term clinical benefits.

Authors/Disclosures
Damian M. May, Other (ACADIA Pharmaceuticals) PRESENTER	Dr. May has received personal compensation for serving as an employee of Acadia Pharmaceuticals. Dr. May has stock in ACADIA Pharmaceuticals. Dr. May has stock in Medtronic. Dr. May has stock in Johnson & Johnson. Dr. May has stock in Pfizer Pharmaceuticals.
	No disclosure on file
	No disclosure on file
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Patrick Lefebvre	No disclosure on file
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