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NCT05499091 | RECRUITING | Rare Diseases

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Sponsor:

University Hospital, Angers

Brief 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.

Condition or disease

Rare Diseases

Genetic Disease

Intervention/treatment

Skin biopsy, blood sample, urine sample

Phase

NA

Study Type : INTERVENTIONAL
Estimated Enrollment : 1200 participants
Masking : NONE
Primary Purpose : DIAGNOSTIC
Official Title : Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Actual Study Start Date : 2022-10-10
Estimated Primary Completion Date : 2042-10-10
Estimated Study Completion Date : 2045-10-10

Information not available for Arms and Intervention/treatment

Ages Eligible for Study:
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
Criteria
Inclusion Criteria
  • Patient
    • * Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
    • * Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.
    • * Patient Affiliated to the French social security system.
    • * Patient consent form or legal representative consent form obtained.
    • Patient's parent
      • * Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
      • * Parent included in the BaMaRa database.
      • * Parent affiliated to the French social security system.
      • * Parent consent form obtained for himself/herself.
      • Patient's brother or sister
        • * Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
        • * Brother or sister included in the BaMaRa database.
        • * Brother or sister affiliated to the French social security system.
        • * Brother or sister consent form obtained for themselves or from their legal representative.
        Exclusion Criteria
        • * Poor understanding of the French language
        • * Legal of administrative liberty deprivation
        • * Psychiatric force care
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Location Details

NCT05499091

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How to Participate

Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

Locations

RECRUITING

France,

Angers University Hospital Center

Angers, France, 49933