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
This trial does not accept healthy volunteersQualifiers
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
Design model
Single group
Treatments tested in this trial
Skin biopsy, blood sample, urine sample
Procedure/Surgeryblood samples, urine samples, skin samples.
Treatment groups
1,200 Participants
are divided into 1 treatment groupGroup A: Study ArmExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.
Candidate genes, suspected to be responsible for rare diseases will be identified before the inclusion, during standard medical care, by exome or genome sequencing.
Time frame
23 years2
Collecting biological samples to build up a biobank
After a candidat gene identification, patient will be proposed sampling (blood or urine) or if a skin biopsy, an amniotic fluid puncture or any surgery are done during standard care, the remaing tissue or fluid, or operative wastes will be eligible too, to be stored in the biobank.
Time frame
23 years3
Candidat gene validation through functional studies.
Biological samples from the biobank will be made available after the study, to some specialized research teams, in order to validate or overturn those previously gene candidates by the way of some biological technics.
Time frame
23 yearsSponsors and contacts
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Source ClinicalTrials.gov