Angelman Syndrome

Condition Description

A genetic disorder causing developmental disabilities and nerve-related symptoms.

Angelman syndrome usually isn't detected until developmental delays become noticeable, usually when a baby is about six to 12 months old.

Symptoms include lack of crawling or babbling, minimal speech, and frequent smiling and laughter. Inability to walk, move, or balance well (ataxia) is also a symptom.

Active Trials

  • TRIAL TITLE: A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome (KIK-AS)

    DESCRIPTION: This is a Phase 1/2, open-label, multiple-dose, study to evaluate the safety, tolerability, and plasma and CSF concentrations of GTX-102 in pediatric participants with Angelman Syndrome (AS).

    SPONSOR: Ultragenyx Pharmaceutical Inc.

    INDICATION: Angelman Syndrome

    STUDY PROTOCOL: GTX-102-001

    PHASE: 1 & 2 OL

    STATUS: Active

    RECRUITING PATIENTS: No