Objective:

To describe current real-world clinical management of Rett syndrome (RTT) from physicians’ perspectives.

Background:

RTT is a severe neurodevelopmental disorder characterized by multisystem comorbidities. RTT has heterogenous treatment strategies but no approved therapy.

Design/Methods:

This study was conducted among neurologists and pediatricians in the US with experience treating ≥2 individuals with RTT, including ≥1 in the past two years. In-depth interviews with five eligible physicians informed the development of a cross-sectional survey that was conducted among 100 eligible physicians.

Results:

Physicians were 51% neurologists and 49% pediatricians, with an average of 19.3 years of experience. Most physicians belonged to private practices (48%) or academic/university medical centers (29%). Neurologists had treated more individuals with RTT throughout their career and in the past two years compared to pediatricians. Most physicians (79% of neurologists, 45% of pediatricians) expressed being comfortable managing RTT. 93% of physicians had experience diagnosing RTT. Most neurologists (50%) used a combination of evaluating symptoms, genetic testing and the 2010 consensus diagnostic criteria, while among pediatricians, a combination of evaluating symptoms and genetic testing was more prevalent (57%). Improving the quality of life (QOL) of individuals with RTT was the most important treatment goal (94%), followed by improving caregivers’ QOL (60%). Physicians most commonly treated behavioral issues, epilepsy/seizures, and feeding issues, and treatment strategies were symptom specific. For instance, pharmacological strategies were commonly used to treat behavioral issues and epilepsy, whereas feeding issues were mainly treated using non-pharmacological approaches. Referral to appropriate specialists was common for all symptoms. The lack of disease-modifying therapies was identified as an unmet need by a large proportion of physicians (37%). 

Conclusions:

RTT is typically managed using symptom-specific strategies. A major unmet need is the lack of novel treatments that are disease-modifying, or that can improve the QOL of individuals with RTT and their caregivers.