Clinical Trials in Brazil / NCT07157254
Active, not recruiting
Phase 2
A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)
NCT07157254 · tracked via the Priya Life Science Brazil tracker
Condition(s) studied
Angelman Syndrome
Investigational drug(s) / intervention(s)
No interventionGTX-102 →
No intervention: During the no treatment period participants do not receive any study drug
GTX-102: antisense oligonucleotide
Study summary
The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.
Eligibility
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
Primary outcome measure(s)
- Subprotocol A/B/C/D: Number of Participants with Treatment Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs), Severe Events, and Events Related to Investigational Product, Procedure, and Premedication — Up to Day 506
- Subprotocol A Only: Bayley-4 Cognitive Without Caregiver Input Raw Score Change from Baseline at Day 338 — Baseline, Day 338
- Subprotocol B/D Only: Multidomain Responder Index (MDRI) Net Response at Day 338 — Baseline, Day 338
The following assessments will be included to calculate the MDRI net response: Bayley-4 Cognitive and Receptive Communication, Aberrant Behavior Checklist- Community (ABC-C) Hyperactivity/Noncompliance (H/N), Angelman Severity Assessment (ASA) Sleep, ASA Gross Motor. For each assessment a meaningful score difference (MSD) is defined. A single net response score per participant will be derived accordingly, and a summary measure of net response will then be calculated across all participants. - Subprotocol C Only: MDRI Net Response at Day 338 — Baseline, Day 338
The following assessments will be included to calculate the MDRI net response: Vineland-3 Expressive and Receptive Communication, ABC-C Irritability, ASA Gross Motor. For each assessment a meaningful score difference (MSD) is defined. A single net response score per participant will be derived accordingly, and a summary measure of net response will then be calculated across all participants.
Trial sites (21)
| Facility | City | Region | Status |
|---|---|---|---|
| Cedars Sinai Medical Center | Los Angeles | California | |
| Rush University Medical Center | Chicago | Illinois | |
| Kennedy Kreiger Institute | Baltimore | Maryland | |
| Clinical Trial Site | Kansas City | Missouri | |
| Rare Disease Research | Hillsborough | North Carolina | |
| Akron Children's Hospital | Akron | Ohio | |
| UT Health Austin | Austin | Texas | |
| Carum Research Inc. | Dallas | Texas | |
| Hospital Universitario Austral | Pilar | Buenos Aires | |
| Hospital de Crianças César Pernetta e Hospital Pequeno Príncipe | Curitiba | Paraná | |
| Casa dos Raros | Santa Cecília | Porto Alegre | |
| Hopital de la Timone | Marseille | France | |
| Necker-Enfants Malades Hospital | Paris | France | |
| Sheba Medical Center | Ramat Gan | Israel | |
| Azienda Ospedaliera Universitaria Meyer IRCCS | Florence | Italy | |
| Fondazione IRCCS Istituto Neurologico C. Besta | Milan | Italy | |
| Clinical Trial Site | Rome | Italy | |
| Hospital de Santa Maria | Lisbon | Portugal | |
| Hospital Santa Joao | Porto | Portugal | |
| Clinical Trial Site | London | United Kingdom | |
| University of Oxford | Oxford | United Kingdom |
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Official registry record
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.
View NCT07157254 on ClinicalTrials.gov ↗ ← All trials in Brazil