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Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

NCT05499091 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 1200

Last updated 2025-07-18

No results posted yet for this study

Summary

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.

Conditions

Interventions

PROCEDURE

Skin biopsy, blood sample, urine sample

blood samples, urine samples, skin samples.

Sponsors & Collaborators

  • University Hospital, Angers

    lead OTHER_GOV

Principal Investigators

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-10-10
Primary Completion
2042-10-10
Completion
2045-10-10

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05499091 on ClinicalTrials.gov