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New angelman drug shows promise in early safety trial

NCT ID NCT04259281

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
Running, but no longer taking on new participants.
Completed This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026

Summary

This study tested a new medicine called GTX-102 in 74 children with Angelman Syndrome, a rare genetic disorder causing developmental delays and seizures. The main goal was to see if the drug is safe and tolerable when given as a spinal injection. Researchers monitored side effects and how the drug moves through the body.

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 1/2

Runs two stages together: safety and dose first, then whether the treatment works.

Participants

74 people

The number who actually took part.

Started

Feb 2020

Finished

Jan 2025

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.

Inclusion Criteria: * Signed informed consent from parent(s) or legal guardian(s) * Documented genetic confirmation of full maternal UBE3A gene deletion causing AS in the region of 15q11.2-q13 including class I, II or III * Stable seizure control (defined as clinically stable with no changes in antiepileptic medications over the prior 1 month before the screening visit, other than weight associated dose adjustments) * Able to ambulate independently, or with an assistive device (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 1.2 x the normal limits * Normal renal function with serum creatinine and spot urine protein ≤ 1.4 x the upper limit of normal (ULN) * Normal hepatic function with total bilirubin, aspartate aminotransferase, alanine aminotransferase, and alkaline phosphatase ≤ 1.4 x ULN. Exception: levels ≤ 2 × ULN are acceptable if due to anti-epileptic drugs (AEDs) or Gilbert syndrome * Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, study restrictions, and all study procedures, including LP procedure * Able to tolerate the anesthetic regimen, if required for LP procedure * A female patient is eligible to participate if she is not pregnant, not breastfeeding, and at least one of the following conditions applies: Female of non-childbearing potential (ie, pre-menarche), Female of childbearing potential who agrees to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the treatment period and for at least 3 months after the final dose of GTX-102 * A male patient is eligible to participate if he agrees to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the treatment period and for at least 3 months after the final dose of GTX-102 Exclusion Criteria: * Any change in medications (excluding AEDs) or diet/supplements intended to treat symptoms of AS (eg, sleeping aids, supplements, dietary change including ketogenic or low-glycemic index diet, other) over the prior 1 month before screening * Any bleeding or platelet disorder * Any clinically significant cardiovascular, endocrine, hepatic, renal, pulmonary, gastrointestinal, neurological, malignant, metabolic, psychiatric, or other condition that, in the judgment of the Investigator, will pose a safety risk, make the patient unsuitable for participation in, and/or unable to complete the study procedures * Any laboratory abnormality, that, in the Investigator's opinion, could adversely affect the safety of the patient, make it unlikely that the course of treatment or follow up would be completed, or impair the assessment of study result * Known positive for hepatitis B virus, hepatitis C virus, or human immunodeficiency virus * Any active infection * Bone, spine, bleeding, or other disorder that exposes the patient to risk of injury or unsuccessful lumbar puncture * Drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors) * Any prior use of gene therapy * Use of any investigational drugs in the past 6 months or within 5 half-lives, whichever period is greater (with the exception of prior GTX 102) * Known hypersensitivity to any oligonucleotide, as demonstrated by an immune mediated reaction (eg, pneumonitis, hepatitis, nephritis, neuritis, or other system inflammation), or a systemic allergic reaction such as signs and symptoms of anaphylaxis, urticaria, clinically significant rash * Patient is pregnant or lactating * Any medical condition that would require intubation for the anesthesia procedure

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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

  • AP-HP Hopital Necker-Enfants Malades

    Paris, 75015, France

  • Austin Health

    Heidelberg, Victoria, 3084, Australia

  • Boston Children's Hospital

    Boston, Massachusetts, 02115, United States

  • British Columbia Children's Hospital

    Vancouver, British Columbia, V6H3V4, Canada

  • Cambridge University Hospitals

    Cambridge, United Kingdom

  • Children's Hospital of Eastern Ontario

    Ottawa, Ontario, K1H 8L1, Canada

  • Children's Hospital of Western Ontario

    London, Ontario, Canada

  • Great Ormond Street Hospital for Children

    London, United Kingdom

  • Hopital de la Timone

    Marseille, France

  • Hospital Sant Joan de Deu

    Esplugues de Llobregat, Barcelona, Spain

  • Hospital Universitari Parc Tauli

    Sabadell, Barcelona, Spain

  • Hospital Universitario Puerta de Hierro

    Majadahonda, Madrid, Spain

  • MAGIC Clinic Ltd

    Calgary, Alberta, T2E 7Z4, Canada

  • McGill University Health Centre

    Montreal, Quebec, Canada

  • Oxford University Hospitals NHS Foundation Trust

    Oxford, OX3 7LE, United Kingdom

  • Queensland Children's Hospital

    South Brisbane, QLD 4101, Australia

  • Rady Children's Hospital

    San Diego, California, 92123, United States

  • Rare Disease Research

    Atlanta, Georgia, 30318, United States

  • Rush University Medical Center

    Chicago, Illinois, 60612, United States

  • The Edmond and Lily Safra Children's Hospital

    Ramat Gan, Israel

  • The Royal Children's Hospital

    Parkville, Victoria, 3052, Australia

  • UCLA Medical Center

    Los Angeles, California, 90095, United States

  • Universitatsklinikum Hamburg-Eppendorf

    Hamburg, 20246, Germany

  • Universitatsklinikum Leipzig

    Leipzig, Saxony, 04103, Germany

  • Weill Cornell Medicine

    New York, New York, 10065, United States

More trials for these conditions

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