Approval Probability 71%
TA Base Rate26%
Adjusted LOA41%
ML RiskLOW_RISK
| NCT ID | Title | Phase | Status | Enrollment | Velocity | Design | Start | Completion | Last Updated | Sites | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|
| NCT06617429 | Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS) | PHASE3 | ACTIVE NOT_RECRUITING | 129 | — | — | Dec 3, 2024 | Nov 1, 2027 | May 6, 2026 | 28 | United States, Canada +4 |
| NCT06415344 | Long-term Extension of GTX-102 in Angelman Syndrome | PHASE3 | ENROLLING BY_INVITATION | 255 | — | — | Jul 31, 2024 | Feb 1, 2029 | May 6, 2026 | 23 | United States, Australia +6 |
| NCT07157254 | A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS) | PHASE2 | RECRUITING | 60 | — | — | Oct 13, 2025 | Jan 1, 2030 | Jun 5, 2026 | 21 | United States, Argentina +6 |
| NCT04259281 | A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome | PHASE1 | COMPLETED | 74 | — | — | Feb 24, 2020 | Jan 8, 2025 | Jan 9, 2026 | 25 | United States, Australia +6 |
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.
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.
| Arm | Type | Description |
|---|---|---|
| GTX-102 | EXPERIMENTAL | Participants will receive GTX-102 via lumbar puncture (LP) during both the double-blind and open-label period |
| Sham-LP then GTX-102 | SHAM_COMPARATOR | Participants will receive sham procedure during the double-blind period and then will receive GTX-102 via LP during the open-label period |
| Subprotocol A GTX-102 | EXPERIMENTAL | 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. |
| Subprotocol B GTX-102 | EXPERIMENTAL | 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. |
| Subprotocol C GTX-102 | EXPERIMENTAL | 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. |
| Subprotocol D GTX-102 | EXPERIMENTAL | 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. |
| Subprotocol D No Intervention then GTX-102 | EXPERIMENTAL | 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. |
| GTX-102 Cohort 1 | EXPERIMENTAL | 3.3 mg starting dose followed by intra-patient dose escalation up to 36 mg and then a maintenance phase (in U.S participants 4 to \<17 years of age) |
| GTX-102 Cohort 2 | EXPERIMENTAL | 10 mg starting dose followed by intra-patient dose escalation up to 36 mg and then a maintenance phase (in U.S participants 4 to \<17 years of age) |
| GTX-102 Cohort 3 | EXPERIMENTAL | 20 mg starting dose followed by intra-patient dose escalation up to 55 mg and then a maintenance phase (in U.S participants 4 to \<17 years of age) |
| GTX-102 Cohort 4 | EXPERIMENTAL | 3.3 mg starting dose followed by slow intra-patient dose escalation up to 5 mg and then a maintenance phase (in Ex-U.S participants 4 to \<8 years of age) |
| GTX-102 Cohort 5 | EXPERIMENTAL | 5 mg starting dose followed by slow intra-patient dose escalation up to 7.5 mg and then a maintenance phase (in Ex-U.S participants ≥ 8 to 17 years of age) |
| GTX-102 Cohort 6 | EXPERIMENTAL | 7.5 mg starting dose followed by slow intra-patient dose escalation up to 10 mg and then a maintenance phase (in Ex-U.S participants 4 to \<8 years of age) |
| GTX-102 Cohort 7 | EXPERIMENTAL | 10 mg starting dose followed by slow intra-patient dose escalation up to 12 mg and then a maintenance phase (in Ex-U.S participants ≥ 8 to 17 years of age) |
| GTX-102 Cohort US | EXPERIMENTAL | 2 mg for 4 monthly doses followed by a quarterly maintenance regimen |
| GTX-102 Expanded Enrollment Cohort A | EXPERIMENTAL | Sponsor selected dose followed by slow intra-patient dose escalation and then a maintenance phase (in Ex-U.S participants 4 to \<8 years of age) |
| GTX-102 Expanded Enrollment Cohort B | EXPERIMENTAL | Sponsor selected dose followed by slow intra-patient dose escalation and then a maintenance phase (in Ex-U.S participants ≥ 8 to 17 years of age) |
| GTX-102 Expanded Enrollment Cohort C | EXPERIMENTAL | Sponsor selected dose followed by slow intra-patient dose escalation and then a maintenance phase (in U.S participants 4 to \<8 years of age) |
| GTX-102 Expanded Enrollment Cohort D | EXPERIMENTAL | Sponsor selected dose followed by slow intra-patient dose escalation and then a maintenance phase (in U.S participants ≥ 8 to 17 years of age) |
| GTX-102 Cohort E | EXPERIMENTAL | Sponsor selected dose followed by slow intra-patient dose escalation and then a maintenance phase (in participants that transition from GTX-102 US Cohort only) |
| Name | Type | Description |
|---|---|---|
| GTX-102 | DRUG | antisense oligonucleotide |
| Sham-LP | PROCEDURE | Small needle prick on the lower back at the location where the LP injection is normally made |
| No intervention | OTHER | During the no treatment period participants do not receive any study drug |
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 assistanc...