Phase 2 Trial for Angelman Syndrome Underway

Cesar Ochoa-Lubinoff, MD, MPH, FAAP

In this podcast, Dr Heidi Moawad interviews Dr Cesar Ochoa-Lubinoff, MD, MPH, FAAP, Associate Professor and Division Chief of developmental-behavioral pediatrics at the Rush University Medical Center.

RESEARCH UPDATE

Angelman syndrome (AS) is a rare, genetic neurodevelopmental disorder. Patients with AS often have profound developmental delays, movement and sleep disorders, seizures, and severe speech impairments. This condition is caused by a loss of function of the imprinted UBE3A gene on maternally inherited chromosome 15. There are no FDA-approved treatments for AS, with current therapeutic approaches focusing on managing disease-specific symptoms. In this podcast, Heidi Moawad, MD interviews Cesar Ochoa-Lubinoff, MD, MPH, FAAP, about recent encouraging clinical trial results in patients with AS.

OV101 is an investigational medicine being developed by Ovid Therapeutics that is designed to target impaired tonic inhibition, a core mechanism of the AS neuropathology. The continued study of OV101 is a critical step forward for the AS community as it is the first targeted brain treatment for AS.

Dr Ochoa-Lubinoff is a board-certified developmental-behavioral pediatrician, Associate Professor and Division Chief of developmental-behavioral pediatrics at the Rush University Medical Center, and Medical Director of the Rush Neurobehavioral Center, Chicago, IL. He is the Co-Director of the Rush Angelman Syndrome clinic sponsored by the Angelman Syndrome Foundation.

Dr Ochoa-Lubinoff has established a multidisciplinary developmental-behavioral pediatrics clinical program at Rush that evaluates and provides specialized follow-up care including psychopharmacological management to children and adolescents with AS, Fragile X syndrome, autism spectrum disorders, Down syndrome, and other complex neurodevelopmental conditions. He has been an investigator in clinical trials for AS, Down syndrome, Fragile X, autism, and other neurodevelopmental disorders. He is the Rush principal investigator for the Angelman Syndrome Natural History study.

Disclosures:

Dr Ochoa-Lubinoff reports that he is a consultant with Ovid Therapeutics.