253 Economic burden of care and treatment options for Rett syndrome: two systematic literature reviews

Abstract

Rett syndrome, a rare disorder caused by MECP2 mutation, causes severe developmental impairment in afflicted girls. We performed two literature reviews in June 2018 to assess Rett syndrome clinical trials (MEDLINE/Embase/ClinicalTrials.gov/Cochrane Library) and the economic burden of care (Medline/Embase/Cochrane Library/Database of Abstracts of Reviews and Effects). The economic burden search yielded 133 articles; intervention type/costs were extracted from 9, representing 4 studies. Enteral feeding/assisted walking increased the risk of respiratory-related hospital admissions, while length-of-stay was lower in younger patients. Mean recovery-stay after scoliosis-correcting surgery was 18.2/12.3 days in each of two studies. Care integration improved outcomes and reduced costs. The clinical trials search yielded 652 articles; efficacy/safety were extracted from 28, representing 20 studies (15 randomized controlled trials, 5 single-arm; N=8–82; follow-up 1–26 months). Nineteen focused on pharmacological symptom treatment; 1 examined environmental enrichment effects; most common primary endpoints: Rett syndrome Gross Motor Scale, Clinical Severity Score, Motor and Behavioral Assessment, and the Anxiety Depression and Mood Scale. Naltrexone, trofinetide, and mecasermin demonstrated clinical benefits, but most treat- ments yielded no significant improvement. Clinical practice guidelines and treatment patterns data were limited. There is demand for treatments targeting the underlying cause, such as gene therapy. Previously presented after 08/2019.jloukes879@avexis.com158