Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

New drug hopes to boost brain function in kids with rare genetic disorder

NCT ID NCT06617429

Disease control Sponsor: Ultragenyx Pharmaceutical Inc Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Aug 07, 2026 · Updated 3 times

Summary

This Phase 3 trial tests a drug called GTX-102 (apazunersen) in 129 children with Angelman syndrome, a genetic condition causing severe developmental delays. The study compares the drug to a sham procedure to see if it improves cognitive function and other symptoms over about 11 months. Participants receive multiple injections into the spine.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
GTX-102 (apazunersen), an antisense oligonucleotide
What this could lead to
If successful, this could lead to a treatment that improves cognitive function and reduces symptoms in children with Angelman syndrome.
What could go wrong
This is an early Phase 3 trial with a small number of participants. The treatment may not work better than a sham procedure, and there could be side effects from the lumbar puncture injections.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 3

Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.

Participants

129 people

The number who actually took part.

Started

Dec 2024

Expected to finish

Nov 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

4 to 17 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Key Inclusion Criteria: * Signed informed consent from parent(s) or legal guardian(s) * Confirmed diagnosis of AS with genetic confirmation of full maternal ubiquitin-protein ligase E3A (UBE3A) gene deletion causing AS in the region of 15q11.2 q13 * Able to ambulate independently, or with assistance at the Screening Visit (note, a child whose primary means of mobility is by wheelchair is excluded from the study) * Platelet count, prothrombin time / international normalized ratio, and partial thromboplastin time within 1.5x the normal limits at the Screening Visit * Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including LP procedure, MRI, and tolerating anesthesia without intubation * From the time of informed consent through to at least 6 months after the final dose of GTX-102, females of childbearing potential who are sexually active must use highly effective contraception or abstinence. Males are able to participate if they agree to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the study and for at least 3 months after the final dose of GTX-102 Key Exclusion Criteria: * Any change in medications or diet/supplements intended to treat symptoms of AS (eg, sleeping aids, antiseizure medications, supplements, dietary change including ketogenic or low-glycemic index diet, other) within the month prior to the Screening Visit (excluding weight-based adjustments) * Any condition that creates an increased risk of unsuccessful LP * Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors) * Known hypersensitivity to GTX-102 or its excipients that, in the judgment of the Investigator, places the subject at increased risk for adverse effects * Presence or history of any condition, lab abnormality, or infection, that, in the judgement of the Investigator, would interfere with participation, pose undue safety risk, or would confound interpretation of results * Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study * Use of any investigational product or investigational medical device within 6 months or 5 half-lives prior to the Screening Visit or any prior use of gene therapy or ASO regardless of duration since last administration * Concurrent participation in any interventional study

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Angelman syndrome are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

Angelman syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Angelman syndrome

Contacts and locations

Locations

  • Boston Children's Hospital

    Boston, Massachusetts, 02115, United States

  • British Columbia Children's Hospital

    Vancouver, V6H 3V4, Canada

  • Carum Research Inc

    Dallas, Texas, 75243, United States

  • Cedars Sinai

    Los Angeles, California, 90048, United States

  • Children's Hospital Colorado

    Aurora, Colorado, 80045, United States

  • Children's Mercy

    Kansas City, Missouri, 64108, United States

  • Columbia University Medical Center

    New York, New York, 10032, United States

  • Haunersche Kinderklinik

    Munich, 80336, Germany

  • Hokkaido University Hospital

    Sapporo, 060-8648, Japan

  • Hospital Sant Joan de Deu

    Barcelona, 08950, Spain

  • Hospital Universitario Parc Tauli

    Barcelona, 08208, Spain

  • Hospital Universitario Puerta de Hierro

    Madrid, 28222, Spain

  • Hospital Universitario Virgen del Rocio

    Seville, 41013, Spain

  • McGill University Health Centre

    Montreal, Quebec, H4A3J1, Canada

  • Medical University of Gdańsk

    Gdansk, 80211, Poland

  • Nagoya City University Graduate School of Medical Sciences

    Nagoya, Aichi-ken, 467-0001, Japan

  • Nicklaus Children's Hospital

    Miami, Florida, 33155, United States

  • Osaka City General Hospital

    Osaka, 543-0021, Japan

  • Polish Mothers Memorial Institute

    Lodz, 93-338, Poland

  • Rare Disease Research

    Atlanta, Georgia, 30329, United States

  • Rare Disease Research

    Hillsborough, North Carolina, 27278, United States

  • Rush University

    Chicago, Illinois, 60612, United States

  • The University of Texas

    Austin, Texas, 78723, United States

  • UCSD, Rady Children's Hospital

    San Diego, California, 92123, United States

  • UCSF

    San Francisco, California, 94143, United States

  • UNC Chapel Hill Pediatrics

    Chapel Hill, North Carolina, 27599, United States

  • Universitaetsklinikum Hamburg-Eppendorf

    Hamburg, 20251, Germany

  • University of Leipzig

    Leipzig, 04155, Germany

More trials for these conditions

Other studies related to the condition(s) this trial covers.