RecruitingPhase 3NCT06914609

REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome

Phase 3 Study of the Efficacy and Safety of ION582 in Children and Adults With Angelman Syndrome


Sponsor

Ionis Pharmaceuticals, Inc.

Enrollment

158 participants

Start Date

Jun 10, 2025

Study Type

INTERVENTIONAL

Conditions

Summary

The purpose of this study is to evaluate the efficacy and safety of ION582 in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.


Eligibility

Min Age: 2 YearsMax Age: 50 Years

Inclusion Criteria6

  • The participants caregiver(s)/ legally authorized representative must have given written informed consent and any authorizations required by local law and be able to comply with all study requirements.
  • Medically stable and can undergo sedation and/or general anesthesia without intubation.
  • Male or female between 2 and lesser than or equal to (≤)50 years of age, depending on specific cohort, at the time of the in-clinic Screening visit.
  • Participant has a clinical diagnosis of Angelman syndrome (AS) with molecular confirmation of either Ubiquitin-protein ligase E3A (UBE3A) deletion or UBE3A mutation.
  • Currently receiving stable doses of concomitant medications typically prescribed for AS, such as anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and special diets, supplements, or nutritional support for at least 8 weeks prior to the Baseline visit.
  • Legally authorized representative/caregiver(s) agree(s) not to post any of the participant's personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, X (formerly Twitter), YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.

Exclusion Criteria6

  • Must not have any clinically significant abnormalities in medical history (e.g., major surgery within 3 months of screening), or on physical examination for which treatment with an antisense oligonucleotide (ASO) would be contraindicated or which, in the opinion of the Principal Investigator (PI), could confound the results of this study.
  • Known brain or spinal disease that would interfere with the lumbar puncture (LP) procedure, cerebrospinal fluid (CSF) circulation, or presence of other factors would affect the safety of the LP procedure.
  • Must not have any other conditions, which, in the opinion of the Investigator, would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study.
  • Must not have any laboratory abnormalities or any other clinically significant abnormalities that would, as assessed by the Investigator, at screening or Baseline, render a participant unsuitable for inclusion.
  • Previous treatment with an oligonucleotide (including small interfering ribonucleic acid (RNA) \[siRNA\], ASOs) gene therapy or gene editing. This exclusion criterion does not apply to approved nucleic acid-based vaccines, including mRNA vaccines, which are allowed.
  • Has molecular confirmation of AS due to paternal uniparental disomy, imprinting center defect, or mosaic findings.

Interested in this trial?

Get notified about updates and connect with the research team.

Interventions

DRUGION582

ION582 will be administered by IT injection.

DRUGPlacebo

ION582 matching placebo will be administered by IT injection.


Locations(36)

Cedars-Sinai Medical Center

Los Angeles, California, United States

Rady Children's Hospital

San Diego, California, United States

Colorado Children's Hospital Research Institute

Aurora, Colorado, United States

Children's National Hospital

Washington D.C., District of Columbia, United States

Nicklaus Children's Hospital

Miami, Florida, United States

Rush University Medical Center

Chicago, Illinois, United States

Boston Children's Hospital

Boston, Massachusetts, United States

Children's Mercy

Kansas City, Missouri, United States

Ichan School of Medicine at Mount Sinai

New York, New York, United States

University of North Carolina at Chapel Hill School of Medicine

Carrboro, North Carolina, United States

Nationwide Children's Hospital

Columbus, Ohio, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Vanderbilt Clinical Research Center

Nashville, Tennessee, United States

Texas Children's Hospital

Houston, Texas, United States

Queensland Children's Hospital

South Brisbane, Queensland, Australia

Perth Children's Hospital

Nedlands, Australia

Sydney Children's Hospital

Randwick, Australia

London Health Science Centre - Children's Hospital

London, Ontario, Canada

McGill University Health Centre

Montreal, Quebec, Canada

University of Alberta Hospital

Edmonton, Canada

British Columbia Children's Hospital

Vancouver, Canada

Klinikum der Ludwig-Maximilians-Universitaet Muenchen

München, California, Germany

Sheba Medical Center

Ramat Gan, Israel

Associazione La Nostra Famiglia - IRCCS Eugenio Medea

Conegliano, Italy

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, Italy

Azienda Ospedaliero Universitaria Pisana

Pisa, Italy

Ospedale Pediatrico Bambino Gesù

Roma, Italy

Osaka Women's and Children's Hospital

Izumi, Osaka, Japan

National Center of Neurology and Psychiatry

Kodaira, Tokyo, Japan

Uniwersyteckie Centrum Kliniczne

Gdansk, Poland

KK Women's and Children's Hospital

Singapore, Singapore

Seoul National University Hospital

Seoul, South Korea

Samsung Medical Center

Seoul, South Korea

Hospital Sant Joan de Deu

Barcelona, Spain

Corporacio Sanitaria Parc Tauli - Hospital de Sabadell

Sabadell, Spain

John Radcliffe Hospital

Oxford, United Kingdom

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

Visit

NCT06914609


Related Trials