Damian M. May, PharmD, MBA, Senior Director Of Health Economics and Outcomes Research at Acadia Pharmaceuticals, discusses data on the patient journey and clinical burden of Rett syndrome in the United States. This data was presented at the 2022 AAN Annual Meeting.

​​Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent. 

As Dr. May explains, 5,940 females with ≥1 medical claim and a diagnosis of Rett syndrome were included in this study which evaluated healthcare claims data to provide an overview of the patient journey and clinical burden of Rett syndrome among female individuals in the US. One of the major findings in this study was the frequency of common clinical manifestations of Rett syndrome. Over an observation period of approximately 2 years, the most prevalent clinical manifestations among female individuals with Rett syndrome were neurological disorders (72.8%), primarily driven by epilepsy (52.1%, followed by gastrointestinal and nutritional disorders (41.9%) and orthopedic disorders (34.6%). Regarding treatment patterns in Rett syndrome patients, feeding assistance was the most prevalent supportive therapy overall (37.9%) and for pediatric (43.3%) and adult individuals (32.2%), followed by physical therapy (33.3%) for the pediatric cohort and other home/hospice care (25.1%) for the adult cohort. The prevalence of speech-language therapy (13.3%) was primarily driven by the pediatric cohort (pediatric: 21.7%; adult: 4.3%). 

Overall, this data emphasize that Rett syndrome patients have substantial concomitant disease burden across their lifespan, as evidenced by the high prevalence of clinical manifestations as well as reliance on both pharmacological and supportive therapy. These findings also suggest the unmet need for effective therapies indicated for Rett syndrome.

To learn more about Rett syndrome and other rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/