Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeNot listed
SponsorUniversity Hospital, Angers
About this trial
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.
Eligibility criteria
Qualifiers
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.
Disqualifiers
Poor understanding of the French language
Legal of administrative liberty deprivation
Psychiatric force care
Trial design
Treatments tested in this trial
- Skin biopsy, blood sample, urine sample
Treatment groups
1,200 Participants
are divided into 1 treatment groupSponsors and collaborators
Source ClinicalTrials.gov