Wheeler A, Sacco P, Rakhit A, Cabo R. Identifying the unmet medical need of Angelman Syndrome: results of a targeted literature review. Poster presented at the 2016 ISPOR 19th Annual European Congress; November 1, 2016. Vienna, Austria. [abstract] Value Health. 2016 Nov; 19(7):A579.

OBJECTIVES: A targeted literature review was conducted to describe the epidemiology, natural history, disease burden and current management approaches for Angelman Syndrome (AS). AS is a rare neurodevelopmental disorder affecting approximately 1 in 20,000 patients. Phenotypic characteristics include severe to profound intellectual disability, lack of speech, difficulties with motor control, significant sleep difficulties and seizures. The severity of phenotype is stable over the life-course and burden for caregivers is thought to be substantial.

METHODS: PubMed served as the primary database for the electronic literature search. Abstracts were reviewed for relevance based on predefined criteria including publication between 2000-2016, focusing on motor, communication, sleep, and behavioral concerns, general epidemiology, diagnostic processes, treatment and caregiver burden were included.

RESULTS: The original search yielded 750 unique articles. Following a review of titles and abstracts, 142 were retained and summarized. Phenotypic features of children and adolescents are more well described than the long-term needs of adults. Movement disorders are nearly universal in AS and contribute to challenges in development of communication and functional living skills. Mobility and communication challenges likely contribute to pervasive behavioral issues including anxiety, aggression, mouthing behaviors, and autistic-like symptoms. Treatment is primarily symptomatic and few studies have been done to demonstrate efficacy of interventions.

CONCLUSIONS: AS is a rare condition which likely has a significant impact on the health-related quality of life (HRQoL) of the individual as well as the family, and the ability of the individual to function independently. There are gaps in the evidence base describing economic burden, impact of symptoms on patient and caregiver HRQoL, and effective treatment options. Additional studies evaluating patient outcomes, reduced caregiver burden and overall economic burden for families and payers are required to build the evidence platform for future targeted treatments.

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