Amit Rakhit, MD, MBA: Developing Therapies for Fragile X Syndrome

“Part of the challenge in developing therapies for Fragile X syndrome is that there aren’t very standardized tools with which we can assess the impact a potential intervention can have.”

Fragile X syndrome, also known as Martin-Bell syndrome, is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment, which tends to impact boys more severely. Affected individuals usually have delayed development of speech and language by age 2.

A major obstacle in developing treatments for rare neurologic disorders and diseases like Fragile X is the lack of standardized measurements for these interventions, in part due to limited research. To help address this, Ovid Therapeutics assessed what been done in previous trials of Fragile X syndrome to establish a Visual Analog Scale, or VAS, to measure the impact of their candidate product. This conceptual model identified a number of symptom and impact concepts, categorized into 8 separate domains: behavior, cognition, speech and communication, sensory perception, emotions, social, activities of daily living (ADL), and caregiver impacts.

To find out more about this, how it incorporates the patient and physician perspectives, and how it can be used in the process of bringing an option to a condition with no approved therapies, NeurologyLive^® spoke with Amit Rakhit, MD, MBA, chief medical officer, and head, Research & Development, Ovid Therapeutics, at the 2019 American Academy of Neurology (AAN) Annual Meeting in Philadelphia, Pennsylvania.

For more coverage of AAN 2019, click here.

REFERENCE

Lee A, Cordeiro L, Marshall C, Wilson E, Visootsak J. Development of a Conceptual Model to Inform a Clinical Outcome Assessment Strategy in Adolescents and Young Adults with Fragile X Syndrome. Presented at: 2019 American Academy of Neurology Annual Meeting. May 4-10, 2019; Philadelphia, PA. Poster 067.