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NCT06555965
STXBP1 and SYNGAP1 Related Disorders Natural History Study
trial testing Non-interventional study in Genetic Disease in 600 participants. Currently enrolling.
30 August 2028
Quick facts
| Lead sponsor | Children's Hospital of Philadelphia |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 600 |
| Start date | 30 August 2023 |
| Primary completion | 30 August 2028 |
| Estimated completion | 30 December 2028 |
| Sites | 5 locations across United States |
Drugs / interventions tested
- Non-interventional study (non-interventional-study) — full drug profile →
Conditions studied
- Genetic Disease — all drugs for Genetic Disease →
- STXBP1 Encephalopathy With Epilepsy — all drugs for STXBP1 Encephalopathy With Epilepsy →
- SYNGAP1-Related Intellectual Disability — all drugs for SYNGAP1-Related Intellectual Disability →
Sponsor
Children's Hospital of Philadelphia
Who can join
Eligibility, any sex, with Genetic Disease or STXBP1 Encephalopathy With Epilepsy. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06555965
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06555965 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Children's Hospital of Philadelphia
- Last refreshed: 29 October 2025
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT06555965.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing