Abstract Details

Title Clinical Management of Rett Syndrome in the Real World: A Physician Survey

Topic General Neurology

Presentation(s) P12 - Poster Session 12 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-002

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.

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.
Jeffrey Neul, MD, PhD (Vanderbilt University Medical Center)	Dr. Neul has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Acadia. Dr. Neul has received personal compensation in the range of $500-$4,999 for serving as a Consultant for GW Pharmaceuticals. Dr. Neul has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Signant Health. Dr. Neul has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Analysis Group. Dr. Neul has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Taysha Gene Therapies. Dr. Neul has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alcyone. Dr. Neul has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ovid. Dr. Neul has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Neul has stock in LizardBio. The institution of Dr. Neul has received research support from NIH. The institution of Dr. Neul has received research support from Acadia. The institution of Dr. Neul has received research support from GW Pharmaceuticals. The institution of Dr. Neul has received research support from International Rett Syndrome Foundation. The institution of Dr. Neul has received research support from Rett Syndrome Research Trust.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Andra-Ecaterina Boca (Analysis Group, Inc.)	No disclosure on file
Patrick Lefebvre	No disclosure on file
Jesus E. Pina-Garza, MD (Tristar Children's Specialists)	Dr. Pina-Garza has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Jazz. Dr. Pina-Garza has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurelis. Dr. Pina-Garza has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sk. Dr. Pina-Garza has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for UCB. Dr. Pina-Garza has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Analysis Group/Acadia. Dr. Pina-Garza has received personal compensation in the range of $50,000-$99,999 for serving on a Speakers Bureau for Same as consultant disclosure. Dr. Pina-Garza has received publishing royalties from a publication relating to health care.

��ɫ��

��ɫ��