New Study Sheds Light on Unmet Clinical Needs and Burden of a Rare Disorder

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Angelman syndrome (AS) is a rare genetic disorder that causes a range of impairments.  Affected individuals have severe to profound intellectual disabilities, seizures, behavioral issues, and challenges with communicating, walking, and sleeping. While the disorder and resulting disabilities are fairly well-defined, little research has been conducted to understand the unmet clinical needs and burden of this condition.

Researchers Anne Wheeler, PhD at RTI International and Patricia Sacco, MPH, RPh, Senior Director of Surveys and Observational Studies at RTI-HS, conducted a targeted literature review of recent studies focused on movement disorders, communication, behavior, and sleep of individuals with AS. The goal of the review was to characterize the unmet clinical need, quality of life impact, and burden of AS on individuals and their caregivers.

The study found that people with AS are widely impaired throughout their lifetime. Challenges like hyperactivity can lessen as they get older, but other issues such as movement disorders, aggression, and anxiety often increase. “AS is a severe condition that presents a high burden for these families,” notes Sacco. There is currently no medication approved for the treatment of AS, and findings suggest that clinicians and caregivers rely on largely unproven therapies to alleviate symptoms. Sacco suggests, “Targeted treatments that reduce symptoms, improve the individual’s functional ability and improve their independence will be an important advancement in the treatment of AS.”

Read the open-access article featured in the Orphanet Journal of Rare Diseases.

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