| NCT Number | NCT06912841 |
| Lead Sponsor | Boston Children's Hospital |
| Conditions | TOR1A, PANK2, HPRT1, EIF2AK2, SOX2, KMT2B, GABRB2, ADCY5 +9 more |
| Enrollment | 500 participants |
| Start Date | 2024-12-01 |
| Primary Completion | 2029-12-01 (estimated) |
| Study Completion | 2030-12-01 (estimated) |
| Updated on ClinicalTrials.gov | 2026-04-13 |