Sham-LP: Small needle prick on the lower back at the location where the LP injection is normally made
Study summary
The primary objective of this study is to evaluate the effect of GTX-102 in cognitive function in participants with deletion-type Angelman Syndrome (AS).
Eligibility
Sex
ALL
Min age
4 Years
Max age
17 Years
Healthy volunteers
No
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
Primary outcome measure(s)
Change from Baseline in Bayley-4 Cognitive Raw Score Without Caregiver Input at Day 338 — Baseline, Day 338
Trial sites (28)
Facility
City
Region
Status
Cedars Sinai
Los Angeles
California
UCSD, Rady Children's Hospital
San Diego
California
UCSF
San Francisco
California
Children's Hospital Colorado
Aurora
Colorado
Nicklaus Children's Hospital
Miami
Florida
Rare Disease Research
Atlanta
Georgia
Rush University
Chicago
Illinois
Boston Children's Hospital
Boston
Massachusetts
Children's Mercy
Kansas City
Missouri
Columbia University Medical Center
New York
New York
UNC Chapel Hill Pediatrics
Chapel Hill
North Carolina
Rare Disease Research
Hillsborough
North Carolina
The University of Texas
Austin
Texas
Carum Research Inc
Dallas
Texas
McGill University Health Centre
Montreal
Quebec
British Columbia Children's Hospital
Vancouver
Canada
Universitaetsklinikum Hamburg-Eppendorf
Hamburg
Germany
University of Leipzig
Leipzig
Germany
Haunersche Kinderklinik
Munich
Germany
Nagoya City University Graduate School of Medical Sciences
Nagoya
Aichi-ken
Osaka City General Hospital
Osaka
Japan
Hokkaido University Hospital
Sapporo
Japan
Medical University of Gdańsk
Gdansk
Poland
Polish Mothers Memorial Institute
Lodz
Poland
Hospital Universitario Parc Tauli
Barcelona
Spain
Hospital Sant Joan de Deu
Barcelona
Spain
Hospital Universitario Puerta de Hierro
Madrid
Spain
Hospital Universitario Virgen del Rocio
Seville
Spain
More Ultragenyx Pharmaceutical Inc trials in the USA
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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