Back to resultsFunctional Study of Rare Disease Related Candidate Genes - ORIGIN (ORIGIN)
Primary Purpose
Rare Diseases, Genetic Disease
Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Skin biopsy, blood sample, urine sample
Sponsored by
About this trial
This is an interventional diagnostic trial for Rare Diseases
Eligibility Criteria
Inclusion Criteria:
Patient :
- Child or adult affected by a rare disease and with an identified variant in a candidate gene 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 and with identified variant in a candidate gene 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 and with identified variant in a candidate gene 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
Sites / Locations
- Centre Hospitalo-Universitaire d'AngersRecruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Study Arm
Arm Description
Specific interventions: Blood samples, skin biopsy, urine collection or operational waste qualified as research sample.
Outcomes
Primary Outcome Measures
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.
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.
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.
Secondary Outcome Measures
Full Information
NCT ID
NCT05499091
First Posted
July 13, 2022
Last Updated
August 10, 2022
Sponsor
University Hospital, Angers
1. Study Identification
Unique Protocol Identification Number
NCT05499091
Brief Title
Functional Study of Rare Disease Related Candidate Genes - ORIGIN
Acronym
ORIGIN
Official Title
Functional Study of Rare Disease Related Candidate Genes - ORIGIN
Study Type
Interventional
2. Study Status
Record Verification Date
August 2022
Overall Recruitment Status
Recruiting
Study Start Date
June 14, 2022 (Actual)
Primary Completion Date
June 14, 2042 (Anticipated)
Study Completion Date
June 14, 2045 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Angers
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Rare Diseases, Genetic Disease
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Model Description
In addition to the standard clinical care, blood samples and/or urine samples and/or skin biopsy will be proposed to the included patient to carry out further genetic analysis.
Masking
None (Open Label)
Allocation
N/A
Enrollment
1200 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Study Arm
Arm Type
Experimental
Arm Description
Specific interventions:
Blood samples, skin biopsy, urine collection or operational waste qualified as research sample.
Intervention Type
Procedure
Intervention Name(s)
Skin biopsy, blood sample, urine sample
Intervention Description
blood samples, urine samples, skin samples.
Primary Outcome Measure Information:
Title
Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.
Description
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 years
Title
Collecting biological samples to build up a biobank
Description
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 years
Title
Candidat gene validation through functional studies.
Description
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 years
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Patient :
Child or adult affected by a rare disease and with an identified variant in a candidate gene 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 and with identified variant in a candidate gene 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 and with identified variant in a candidate gene 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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Estelle COLIN, MD-PhD
Phone
02.41.35.34.70
Email
escolin@chu-angers.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Clément PROUTEAU, MSc
Email
clement.prouteau@chu-angers.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Estelle COLIN, MD-PhD
Organizational Affiliation
escolin@chu-angers.fr
Official's Role
Principal Investigator
Facility Information:
Facility Name
Centre Hospitalo-Universitaire d'Angers
City
Angers
ZIP/Postal Code
49933
Country
France
Individual Site Status
Recruiting
12. IPD Sharing Statement
Plan to Share IPD
Undecided
Learn more about this trial
Functional Study of Rare Disease Related Candidate Genes - ORIGIN
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