Angelman Syndrome

Angelman syndrome is a rare genetic disorder affecting the nervous system, leading to developmental delays and neurological problems. People with Angelman syndrome typically have a normal life span but require lifelong care.

  • Cause: Loss or malfunction of the UBE3A gene on chromosome 15, often due to a deletion or mutation; not usually inherited.

  • Features: Severe developmental delays, little or no speech, frequent smiling/laughter, balance issues, seizures, and a happy, excitable demeanor.

  • Diagnosis: Based on clinical features and confirmed with genetic testing.

  • Treatment: No cure; management includes therapy (speech, physical), medications for seizures, and educational support.

Active Trials

  • TITLE: A Phase 2/3, Open-label, Baseline-controlled Study Investigating the Safety and Efficacy of GTX-102 in Subjects with Angelman Syndrome

    SPONSOR: Ultragenyx Pharmaceutical Inc.

    INDICATION: Angelman Syndrome

    PROTOCOL: GTX-102-CL210

    PHASE: 2/3

    DESCRIPTION: GTX-102 is a human ubiquitin-protein ligase E3A antisense (UBE3A-AS) transcript-targeted antisense oligonucleotide (ASO) intended for the treatment of Angelman syndrome (AS). Findings from the Phase 1/2 dose-finding study (GTX-102-001) suggest a positive efficacy signal and favorable benefit-risk profile for GTX-102 in pediatric patients with AS, and a Phase 3 study (GTX-102-CL301) is being conducted to generate controlled data to support regulatory marketing applications in the same study population as evaluated in the Phase 1/2 study. The purpose of this Phase 2/3 study is to investigate the safety and efficacy of GTX-102 in subjects with AS in age groups and genotypes that were not eligible for participation in the Phase 1/2 or Phase 3 study.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: North Carolina
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  • TITLE: A Phase 3, Randomized, Double-blind, Sham-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects with Angelman Syndrome

    SPONSOR: Ultragenyx Pharmaceutical Inc.

    INDICATION: Angelman Syndrome

    PROTOCOL: GTX-102-CL301

    PHASE: 3

    DESCRIPTION: GTX-102 is a human ubiquitin-protein ligase E3A antisense (UBE3A-AS) transcript-targeted antisense oligonucleotide (ASO) intended for the treatment of Angelman syndrome (AS). Findings from the Phase 1/2 dose-finding study (GTX-102-001) suggest a positive efficacy signal and favorable benefit risk profile for GTX-102 in pediatric patients with AS. The purpose of this study is to investigate the efficacy and safety of GTX-102 in AS.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Georgia, North Carolina
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  • TITLE: A Long-term Extension Trial Investigating the Safety and Efficacy of GTX-102 in Patients with Angelman Syndrome

    SPONSOR: Ultragenyx Pharmaceutical Inc.

    INDICATION: Angelman Syndrome

    PROTOCOL: GTX-102-CL302

    PHASE: 3

    DESCRIPTION: GTX-102 is a human ubiquitin-protein ligase E3A antisense transcript (UBE3A-AS) transcript-targeted antisense oligonucleotide (ASO) intended for the treatment of Angelman syndrome (AS). The purpose of this open-label, long-term extension study is to investigate the long-term safety and efficacy of GTX-102 in AS.

    STATUS: Active

    RECRUITING PATIENTS: No (rollover from GTX-102 trials)

    RDR LOCATION: Georgia

Past Trials

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

    SPONSOR: Ultragenyx Pharmaceutical Inc.

    INDICATION: Angelman Syndrome

    PROTOCOL: GTX-102-001

    PHASE: 1 & 2 OL

    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).

    STATUS: Completed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia