A Phase 2, Open-label, Basket Study Investigating the Safety and Efficacy of GTX-102 in Adult and Pediatric Subjects With Deletion- or Nondeletion-type Angelman Syndrome

Status: Recruiting
Location: See all (22) locations...
Intervention Type: Other, Drug
Study Type: Interventional
Study Phase: Phase 2
SUMMARY

The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1
Maximum Age: 64
Healthy Volunteers: f
View:

• Signed informed consent from parent(s) or legal guardian(s)

• Males and females of the following ages and genotypes at time of informed consent:

‣ Subprotocol A: ≥ 1 to \< 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman syndrome

⁃ Subprotocol B: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of UPD/ICD Angelman syndrome

⁃ Subprotocol C: ≥ 18 to \< 65 years of age with a genetically confirmed diagnosis of Angelman syndrome, any genotype

⁃ Subprotocol D: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman syndrome

• Weight ≥ 8 kg at Screening Visit

• 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

• 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

• 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

Locations
United States
California
Clinical Trial Site
NOT_YET_RECRUITING
Los Angeles
Illinois
Rush University Medical Center
RECRUITING
Chicago
Maryland
Clinical Trial Site
NOT_YET_RECRUITING
Baltimore
Missouri
Clinical Trial Site
NOT_YET_RECRUITING
Kansas City
North Carolina
Rare Disease Research
RECRUITING
Hillsborough
Ohio
Akron Children's Hospital
RECRUITING
Akron
Pennsylvania
Clinical Trial Site
NOT_YET_RECRUITING
Philadelphia
Texas
Clinical Trial Site
NOT_YET_RECRUITING
Austin
Carum Research Inc.
RECRUITING
Dallas
Other Locations
Argentina
Clinical Trial Site
NOT_YET_RECRUITING
Pilar
Brazil
Clinical Trial Site
NOT_YET_RECRUITING
Curitiba
Clinical Trial Site
NOT_YET_RECRUITING
Santa Cecília
France
Clinical Trial Site
NOT_YET_RECRUITING
Marseille
Clinical Trial Site
NOT_YET_RECRUITING
Paris
Israel
Clinical Trial Site
NOT_YET_RECRUITING
Ramat Gan
Italy
Clinical Trial Site
NOT_YET_RECRUITING
Florence
Clinical Trial Site
NOT_YET_RECRUITING
Milan
Clinical Trial Site
NOT_YET_RECRUITING
Rome
Portugal
Clinical Trial Site
NOT_YET_RECRUITING
Lisbon
Clinical Trial Site
NOT_YET_RECRUITING
Porto
United Kingdom
Clinical Trial Site
NOT_YET_RECRUITING
London
Clinical Trial Site
NOT_YET_RECRUITING
Oxford
Contact Information
Primary
Patients Contact Trial Recruitment
Trialrecruitment@ultragenyx.com
1-888-756-8657
Backup
HCPs Contact: Medical Information
medinfo@ultragenyx.com
1-888-756-8657
Time Frame
Start Date: 2025-10-13
Estimated Completion Date: 2030-01
Participants
Target number of participants: 60
Treatments
Experimental: Subprotocol A GTX-102
Participants with deletion-type Angelman syndrome, ≥1 to \<4 years of age will receive increasing doses of GTX-102 via intrathecal (IT) injection until the target dose is achieved. Dosing occurs every 3 months (Q3M) thereafter.
Experimental: Subprotocol B GTX-102
Participants with paternal uniparental disomy (UPD)/imprinting center defect (ICD) Angelman syndrome, ≥4 to \<18 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
Experimental: Subprotocol C GTX-102
Participants with all genotypes of Angelman syndrome, ≥18 to \<65 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
Experimental: Subprotocol D GTX-102
Participants with mutation-type Angelman syndrome, ≥4 to \<18 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
Experimental: Subprotocol D No Intervention then GTX-102
Participants with mutation-type Angelman syndrome, ≥4 to \<18 years of age will receive no treatment during the initial period. At the end of the no treatment period, participants will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
Related Therapeutic Areas
Sponsors
Leads: Ultragenyx Pharmaceutical Inc

This content was sourced from clinicaltrials.gov