Rare DiseasesORIGINNCT05499091
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
A study testing Skin biopsy, blood sample, urine sample in people with Rare Diseases and Genetic Disease, run by University Hospital, Angers at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Genetic Disease
- What is being tested?
- Skin biopsy, blood sample, urine sample
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,200 participants
- Where
- 1 siteFrance
- Study dates
- 10 Oct 2022to 10 Oct 2045
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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 :
Show all 15Show fewer
- 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.
Who cannot join
- Poor understanding of the French language
- Legal of administrative liberty deprivation
- Psychiatric force care
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Clément PROUTEAU, MSc contact
France1 site, 1 recruiting
- Recruiting
Centre Hospitalo-Universitaire d'Angers
Angers, 49933
About this study
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
- Rare Diseases, Genetic Disease
- Being tested
- Skin biopsy, blood sample, urine sample
- Medical subject headings
- Rare Diseases, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsy, blood sample, urine sampleProcedure or surgery
blood samples, urine samples, skin samples.
| Study group | Role | What they receive |
|---|---|---|
| Study Arm | Experimental | Specific interventions:
Blood samples, skin biopsy, urine collection or operational waste qualified as research sample. Receives: Procedure: Skin biopsy, blood sample, urine sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 23 years
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.
Measured: 23 years
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.
Measured: 23 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Aug 2022
- Study start10 Oct 2022
- Primary completion10 Oct 2042 (estimated)
- Study completion10 Oct 2045 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by University Hospital, AngersThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- 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)
- Enrolment
- 1,200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Angers
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Estelle COLIN, MD-PhD, Principal investigator, escolin@chu-angers.fr
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05499091
- Sponsor's protocol ID
- 49RC22_0061
- Acronym
- ORIGIN
- Status last verified
- Jun 2026
- First submitted
- 13 Jul 2022
- Last updated
- 29 Jun 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 29 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
- ClinicalTrials.gov ID
- NCT05499091
- Acronym / sponsor ID
- ORIGIN / 49RC22_0061
- Conditions
- Rare Diseases, Genetic Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 1,200 participants (estimated)
- Lead sponsor
- University Hospital, AngersOther government
- Study start
- 10 Oct 2022 (actual)
- Primary completion
- 10 Oct 2042 (estimated)
- Study completion
- 10 Oct 2045 (estimated)
- First posted
- 12 Aug 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- 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.
| Arm | Type | Receives |
|---|---|---|
| Study Arm | Experimental | Procedure: Skin biopsy, blood sample, urine sampleSpecific interventions: Blood samples, skin biopsy, urine collection or operational waste qualified as research sample. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (15 listed)
- 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.
- Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
Key exclusion criteria (3 listed)
- Poor understanding of the French language
- Legal of administrative liberty deprivation
- Psychiatric force care
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Skin biopsy, blood sample, urine sampleblood samples, urine samples, skin samples. | Procedure or surgery | Study Arm |
Primary outcome
Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.
Time frame: 23 years
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
Time frame: 23 years
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.
Time frame: 23 years
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jun 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Clément PROUTEAU, MSc contact
Estelle COLIN, MD-PhD principal investigator
escolin@chu-angers.fr
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Skin biopsy, blood sample, urine sample in people with Rare Diseases and Genetic Disease, run by University Hospital, Angers at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 15 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Estelle COLIN, MD-PhD (02.41.35.34.70, escolin@chu-angers.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies. (time frame: 23 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Jun 2026.