A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome

Completed · Phase 1/Phase 2

Conditions studied: Angelman Syndrome

In brief

The primary objective of the study is to evaluate the safety and tolerability of multiple-ascending doses of GTX-102 administered by intrathecal (IT) injection to participants with Angelman Syndrome (AS).

Key facts

Study ID: NCT04259281
Run by: Ultragenyx Pharmaceutical Inc
People needed: 74
Starts: 2020-02-24
Expected to finish: 2025-01-08
Last updated by the study team: 2026-01-09

Who can join

Age: 4 and older, up to 17. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

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

Where it is running

UCLA Medical Center — Los Angeles, California, United States
Rady Children's Hospital — San Diego, California, United States
Rare Disease Research — Atlanta, Georgia, United States
Rush University Medical Center — Chicago, Illinois, United States
Boston Children's Hospital — Boston, Massachusetts, United States
Weill Cornell Medicine — New York, New York, United States
Austin Health — Heidelberg, Victoria, Australia
The Royal Children's Hospital — Parkville, Victoria, Australia
Queensland Children's Hospital — South Brisbane, Australia
MAGIC Clinic Ltd — Calgary, Alberta, Canada
British Columbia Children's Hospital — Vancouver, British Columbia, Canada
Children's Hospital of Western Ontario — London, Ontario, Canada
Children's Hospital of Eastern Ontario — Ottawa, Ontario, Canada
McGill University Health Centre — Montreal, Quebec, Canada
Hopital de la Timone — Marseille, France
AP-HP Hopital Necker-Enfants Malades — Paris, France
Universitatsklinikum Leipzig — Leipzig, Saxony, Germany
Universitatsklinikum Hamburg-Eppendorf — Hamburg, Germany
The Edmond and Lily Safra Children's Hospital — Ramat Gan, Israel
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
Cambridge University Hospitals — Cambridge, United Kingdom
Great Ormond Street Hospital for Children — London, United Kingdom
Oxford University Hospitals NHS Foundation Trust — Oxford, United Kingdom

Full record on ClinicalTrials.gov

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