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NCT04399694
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
trial in Genetic Disease in 56 participants. Completed in 11 April 2024.
11 April 2024
Quick facts
| Lead sponsor | Duke University |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 56 |
| Start date | 3 March 2020 |
| Primary completion | 11 April 2024 |
| Estimated completion | 11 April 2024 |
| Sites | 1 location across United States |
Conditions studied
- Genetic Disease — all drugs for Genetic Disease →
- Inborn Errors of Metabolism — all drugs for Inborn Errors of Metabolism →
- Glycogen Storage Disease — all drugs for Glycogen Storage Disease →
- Lysosomal Storage Diseases — all drugs for Lysosomal Storage Diseases →
Sponsor
Duke University
Who can join
Eligibility, any sex, with Genetic Disease or Inborn Errors of Metabolism. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.
Publications & conference data
No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.
Verify or expand the search:
- PubMed search for NCT04399694
- 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 NCT04399694 (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 Duke University
- Last refreshed: 15 January 2026
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/NCT04399694.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing