NCT06914609

Brief 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.

Trial Health

88
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
158

participants targeted

Target at P25-P50 for phase_3

Timeline
48mo left

Started Jun 2025

Longer than P75 for phase_3

Geographic Reach
12 countries

38 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress19%
Jun 2025Apr 2030

First Submitted

Initial submission to the registry

March 22, 2025

Completed
15 days until next milestone

First Posted

Study publicly available on registry

April 6, 2025

Completed
2 months until next milestone

Study Start

First participant enrolled

June 10, 2025

Completed
2.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2027

Expected
2.7 years until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2030

Last Updated

April 29, 2026

Status Verified

April 1, 2026

Enrollment Period

2.1 years

First QC Date

March 22, 2025

Last Update Submit

April 27, 2026

Conditions

Keywords

ION582Angelman Syndrome

Outcome Measures

Primary Outcomes (1)

  • Change in Performance on the Expressive Communication Subdomain Raw Score of the Bayley Scales for Infant and Toddler Development-4 (Bayley-4) Without Caregiver Input in Cohort 1

    The Bayley-4 is a performance-based assessment of developmental functioning across communication, cognition, and motor skills. The expressive communication subdomain of communication measures preverbal and verbal communication. The total raw score reflects the sum of all the item scores within the expressive communication subdomain, with higher scores reflecting greater expressive communication ability.

    Baseline and Week 52

Secondary Outcomes (9)

  • Change in Bayley Scales for Infant and Toddler Development-4 (Bayley-4): Cognition Subdomain Raw Score Without Caregiver Input

    Baseline and Week 52

  • Change in Symptoms of Angelman Syndrome -Clinician Global Impression of Change (SAS-CGI-C): Overall AS

    Baseline and Week 52

  • Change in Vineland Adaptive Behavior Scale-3 (Vineland-3): Receptive Communication Subdomain Raw Score

    Baseline and Week 52

  • Change in Vineland Adaptive Behavior Scale-3 (Vineland-3): Daily Living Skills, Personal Subdomain Raw Score

    Baseline and Week 52

  • Change in Symptoms of Angelman Syndrome - Clinician Global Impression of Change (SAS-CGI-C): Sleep Problems

    Baseline and Week 52

  • +4 more secondary outcomes

Study Arms (4)

Cohort 1 ION582 80 mg

EXPERIMENTAL

Participants (aged 2 to \<18 years old) will be administered ION582 80 mg via IT injection Q12W during the double blind and LTE treatment periods.

Drug: ION582

Cohort 1 Placebo

PLACEBO COMPARATOR

Participants (aged 2 to \<18 years old) will be administered ION582 matching placebo via IT injection Q12W during the double-blind treatment period and then administered ION582 40 mg or 80 mg Q12W during the LTE treatment period.

Drug: Placebo

Cohort 2 ION582 80 mg

EXPERIMENTAL

Participants (aged 18 to ≤50 years old) will be administered ION582 80 mg via IT injection Q12W during the double blind and LTE treatment periods.

Drug: ION582

Cohort 2 Placebo

PLACEBO COMPARATOR

Participants (aged 18 to ≤50 years old) will be administered ION582 matching placebo via IT injection Q12W during the double-blind treatment period and then randomized to ION582 40 mg or 80 mg Q12W during the LTE treatment period.

Drug: Placebo

Interventions

ION582DRUG

ION582 will be administered by IT injection.

Cohort 1 ION582 80 mgCohort 2 ION582 80 mg

ION582 matching placebo will be administered by IT injection.

Cohort 1 PlaceboCohort 2 Placebo

Eligibility Criteria

Age2 Years - 50 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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.

You may not qualify if:

  • 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.
  • Has molecular confirmation of AS due to paternal uniparental disomy, imprinting center defect, or mosaic findings.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (38)

Cedars-Sinai Medical Center

Los Angeles, California, 90048, United States

RECRUITING

Rady Children's Hospital

San Diego, California, 92123, United States

RECRUITING

Colorado Children's Hospital Research Institute

Aurora, Colorado, 80045, United States

RECRUITING

Children's National Hospital

Washington D.C., District of Columbia, 20011, United States

RECRUITING

Nicklaus Children's Hospital

Miami, Florida, 33155, United States

RECRUITING

Children's Healthcare of Atlanta

Atlanta, Georgia, 30329, United States

RECRUITING

Rush University Medical Center

Chicago, Illinois, 60612, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Children's Mercy

Kansas City, Missouri, 64108, United States

RECRUITING

Ichan School of Medicine at Mount Sinai

New York, New York, 10029, United States

RECRUITING

University of North Carolina at Chapel Hill School of Medicine

Carrboro, North Carolina, 27510, United States

RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Vanderbilt Clinical Research Center

Nashville, Tennessee, 37232, United States

RECRUITING

Texas Children's Hospital

Houston, Texas, 77030, United States

RECRUITING

Queensland Children's Hospital

South Brisbane, Queensland, 4101, Australia

RECRUITING

Perth Children's Hospital

Nedlands, 6009, Australia

RECRUITING

Sydney Children's Hospital

Randwick, 2031, Australia

RECRUITING

London Health Science Centre - Children's Hospital

London, Ontario, N6A 5W9, Canada

RECRUITING

McGill University Health Centre

Montreal, Quebec, H4A 3J1, Canada

RECRUITING

University of Alberta Hospital

Edmonton, T6G 2B7, Canada

RECRUITING

British Columbia Children's Hospital

Vancouver, V6H 3V4, Canada

RECRUITING

Klinikum der Ludwig-Maximilians-Universitaet Muenchen

München, 81377, Germany

RECRUITING

Sheba Medical Center

Ramat Gan, 5265601, Israel

RECRUITING

Associazione La Nostra Famiglia - IRCCS Eugenio Medea

Conegliano, 31015, Italy

NOT YET RECRUITING

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, 20133, Italy

NOT YET RECRUITING

Azienda Ospedaliero Universitaria Pisana

Pisa, 56126, Italy

NOT YET RECRUITING

Ospedale Pediatrico Bambino Gesù

Roma, 00165, Italy

NOT YET RECRUITING

Osaka Women's and Children's Hospital

Izumi, Osaka, 594-1101, Japan

RECRUITING

National Center of Neurology and Psychiatry

Kodaira, Tokyo, 187-8551, Japan

RECRUITING

Uniwersyteckie Centrum Kliniczne

Gdansk, 80-952, Poland

NOT YET RECRUITING

KK Women's and Children's Hospital

Singapore, 229899, Singapore

RECRUITING

Seoul National University Hospital

Seoul, 03080, South Korea

RECRUITING

Samsung Medical Center

Seoul, 06351, South Korea

RECRUITING

Hospital Sant Joan de Deu

Barcelona, 08950, Spain

RECRUITING

Corporacio Sanitaria Parc Tauli - Hospital de Sabadell

Sabadell, 08208, Spain

RECRUITING

Great Ormond Street Hospital for Children - NHS Foundation Trust

London, WC1N 3JH, United Kingdom

RECRUITING

John Radcliffe Hospital

Oxford, OX3 9DU, United Kingdom

RECRUITING

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement DisordersCentral Nervous System DiseasesNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornImprinting Disorders

Central Study Contacts

Study Design

Study Type
interventional
Phase
phase 3
Allocation
RANDOMIZED
Masking
QUADRUPLE
Who Masked
PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
Purpose
TREATMENT
Intervention Model
PARALLEL
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 22, 2025

First Posted

April 6, 2025

Study Start

June 10, 2025

Primary Completion (Estimated)

August 1, 2027

Study Completion (Estimated)

April 1, 2030

Last Updated

April 29, 2026

Record last verified: 2026-04

Data Sharing

IPD Sharing
Will share

Ionis may share anonymized individual participant data, aggregated clinical data, and other types of data that support the results in this study. Data requests from qualified researchers will be considered once all three of the following criteria are met: (1) 12 months from marketing approval of the study drug in both the United States and European Union; (2) 18 months from conclusion of the study; and (3) 6 months from publication of study article. Access would be via a secure environment and is contingent upon approval of a research proposal and entry into an appropriate data use agreement. Requests to access data can be submitted via the website https://vivli.org/ourmember/ionis/.

More information

Locations