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New hope for angelman syndrome: experimental drug enters Mid-Stage trial

NCT ID NCT07157254

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Sep 10, 2026 · Updated 5 times

Summary

This study tests an experimental drug called GTX-102 (apazunersen) in 60 people with Angelman syndrome, a genetic disorder causing developmental delays and seizures. Participants range from 1 to 65 years old and are grouped by age and genetic type. The goal is to see if the drug is safe and can improve skills like thinking, communication, and movement.

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, communication, and motor skills in people with Angelman syndrome.
What could go wrong
This is an early Phase 2 study with only 60 participants, so results may not apply to everyone. The drug may cause side effects or fail to show meaningful improvement.

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 2

Tests whether the treatment actually works, and watches for side effects, in a larger group.

Participants

About 60 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2025

Expected to finish

Jan 2030

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

1 year to 64 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.

Inclusion Criteria: 1. Signed informed consent from parent(s) or legal guardian(s) 2. Males and females of the following ages and genotypes at time of informed consent: 1. Subprotocol A: ≥ 1 to \< 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman syndrome 2. Subprotocol B: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of UPD/ICD Angelman syndrome 3. Subprotocol C: ≥ 18 to \< 65 years of age with a genetically confirmed diagnosis of Angelman syndrome, any genotype 4. Subprotocol D: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman syndrome 3. Weight ≥ 8 kg at Screening Visit 4. Platelet count, prothrombin time / international normalized ratio, and partial thromboplastin time \< 1.5x the upper limit of normal and platelets \> 75,000 cells/mm3 at the Screening Visit 5. Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including lumbar puncture (LP) procedure, magnetic resonance imaging (MRI) and tolerating anesthesia without intubation 6. 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 Exclusion Criteria: 1. Any change in medications or diet/supplements intended to treat symptoms of Angelman Syndrome (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) 2. Any condition that creates an increased risk of unsuccessful lumbar puncture 3. Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors) 4. Known hypersensitivity to GTX-102 or its excipients or required premedication that, in the judgment of the Investigator, places the subject at increased risk for adverse effects 5. Presence or history of any condition, lab abnormality, or infection that, in the judgment of the Investigator, would interfere with study participation, pose undue safety risk, or would confound interpretation of results 6. Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study 7. 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 an ASO regardless of length of time since last use 8. Concurrent participation in any interventional study

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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

  • Akron Children's Hospital

    Akron, Ohio, 44308, United States

  • Azienda Ospedaliera Universitaria Meyer IRCCS

    Florence, Italy

  • Carum Research Inc.

    Dallas, Texas, 75243, United States

  • Casa dos Raros

    Santa Cecília, Porto Alegre, Brazil

  • Cedars Sinai Medical Center

    Los Angeles, California, 90048, United States

  • Clinical Trial Site

    Kansas City, Missouri, 64108, United States

  • Clinical Trial Site

    Rome, Italy

  • Clinical Trial Site

    London, United Kingdom

  • Fondazione IRCCS Istituto Neurologico C. Besta

    Milan, Italy

  • Hopital de la Timone

    Marseille, France

  • Hospital Santa Joao

    Porto, Portugal

  • Hospital Universitario Austral

    Pilar, Buenos Aires, Argentina

  • Hospital de Crianças César Pernetta e Hospital Pequeno Príncipe

    Curitiba, Paraná, Brazil

  • Hospital de Santa Maria

    Lisbon, Portugal

  • Kennedy Kreiger Institute

    Baltimore, Maryland, 21205, United States

  • Necker-Enfants Malades Hospital

    Paris, France

  • Rare Disease Research

    Hillsborough, North Carolina, 27278, United States

  • Rush University Medical Center

    Chicago, Illinois, 60612, United States

  • Sheba Medical Center

    Ramat Gan, Israel

  • UT Health Austin

    Austin, Texas, 78723, United States

  • University of Oxford

    Oxford, United Kingdom

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