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NCT05499091 · ClinicalTrials.gov record · last posted 2026-06-29

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Study acronym: ORIGIN
StatusRecruiting
PhaseNot applicable
Started2022-10-10
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from the ClinicalTrials.gov record
Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.

Amendment record 3 amendments on the ClinicalTrials.gov record

This ClinicalTrials.gov record has been amended 3 times since 2022-08-10; most recent amendment 2026-06-25. DataLookout shows field-level changes from the day a trial enters its daily monitoring; earlier amendments are counted here from the ClinicalTrials.gov version history. See every version on ClinicalTrials.gov ↗

Trial Details
NCT Number NCT05499091
Lead Sponsor University Hospital, Angers
Conditions Rare Diseases, Genetic Disease
Enrollment 1,200 participants
Start Date 2022-10-10
Primary Completion 2042-10-10 (estimated)
Study Completion 2045-10-10 (estimated)
Updated on ClinicalTrials.gov 2026-06-29