Rare Diseases of Genetic OriginDISCOVERYNCT03287193
Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
An observational study of Rare Diseases of Genetic Origin and Rare Forms of Common Diseases Suspected of Being Genetic in Origin, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
Rare diseases are conditions affecting a small number of people, requiring specific and often multidisciplinary medical care. There are over 7,000 rare diseases, around 80% of which are genetic in origin. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases of Genetic Origin, Rare Forms of Common Diseases Suspected of Being Genetic in Origin
- What is being tested?
- Blood and/or tissue sampling and high-throughput sequencing
- How many people
- 850 participants
- Where
- 1 siteFrance
- Study dates
- 13 Mar 2017to Dec 2027
- Phase
- Observational
- 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
Study population: Patients followed at the Centre de Référence Anomalies du Développement du CHU de Dijon
Who may be able to join
- -Patients (children or adults) with a suspected rare disease (or rare form of a common disease) of genetic origin for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.
- OR
- -Foetuses with developmental abnormalities for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.
- OR
- Apparently healthy relatives or controls AND
- Consent of the patient or his/her legal representative
- Suitable level of understanding
Who cannot join
- Patients without national health insurance cover
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Chu Dijon Bourogne
Dijon, 21000
Laurence OLIVIER-FAIVRE, 03.80.29.53.13, laurence.faivre@chu-dijon.fr
About this study
Rare diseases are conditions affecting a small number of people, requiring specific and often multidisciplinary medical care. There are over 7,000 rare diseases, around 80% of which are genetic in origin. These diseases are generally severe, chronic and progressive, and can considerably affect the quality of life of sufferers.
Although significant efforts in the search for genetic causes over the last two decades have led to the identification of thousands of genes associated with Mendelian diseases, half of all individuals with a rare disease remain without a genetic diagnosis. It is important to pursue the ambition of participating in the effort set by Europe, namely the identification of a large majority of the genetic causes responsible for rare diseases, and to be able to provide genetic counselling to patients and their families. In the past, scientific research to discover genes required a large number of families and individuals, and was long and costly to carry out. Today, this approach is facilitated by next-generation sequencing.
When high-throughput sequencing (HTS) identifies candidate genes or genetic abnormalities, it may be necessary to propose functional analyses to try to reach a conclusion.
- Conditions
- Rare Diseases of Genetic Origin, Rare Forms of Common Diseases Suspected of Being Genetic in Origin
- Being tested
- Blood and/or tissue sampling, high-throughput sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood and/or tissue samplingBiological
for patient and related person
high-throughput sequencingGenetic
exome or whole genome sequencing
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of new genes or genetic abnormalities identified.
Measured: through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2017
- Study start13 Mar 2017
- Primary completionMar 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare Diseases of Genetic OriginStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 850 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03287193
- Sponsor's protocol ID
- OLIVIER-FAIVRE 2016
- Acronym
- DISCOVERY
- Status last verified
- Oct 2025
- First submitted
- 22 Aug 2017
- Last updated
- 8 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
- ClinicalTrials.gov ID
- NCT03287193
- Acronym / sponsor ID
- DISCOVERY / OLIVIER-FAIVRE 2016
- Conditions
- Rare Diseases of Genetic Origin, Rare Forms of Common Diseases Suspected of Being Genetic in Origin
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 850 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- 13 Mar 2017 (actual)
- Primary completion
- Mar 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 19 Sep 2017 (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.
Rare diseases are conditions affecting a small number of people, requiring specific and often multidisciplinary medical care. There are over 7,000 rare diseases, around 80% of which are genetic in origin. These diseases are generally severe, chronic and progressive, and can considerably affect the quality of life of sufferers.
Although significant efforts in the search for genetic causes over the last two decades have led to the identification of thousands of genes associated with Mendelian diseases, half of all individuals with a rare disease remain without a genetic diagnosis. It is important to pursue the ambition of participating in the effort set by Europe, namely the identification of a large majority of the genetic causes responsible for rare diseases, and to be able to provide genetic counselling to patients and their families. In the past, scientific research to discover genes required a large number of families and individuals, and was long and costly to carry out. Today, this approach is facilitated by next-generation sequencing.
When high-throughput sequencing (HTS) identifies candidate genes or genetic abnormalities, it may be necessary to propose functional analyses to try to reach a conclusion.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients followed at the Centre de Référence Anomalies du Développement du CHU de Dijon
Key inclusion criteria (7 listed)
- -Patients (children or adults) with a suspected rare disease (or rare form of a common disease) of genetic origin for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.
- OR
- -Foetuses with developmental abnormalities for which the molecular basis is not known, or for which the understanding of the physiopathological mechanism is imperfectly known.
- OR
- Apparently healthy relatives or controls AND
Key exclusion criteria (1 listed)
- Patients without national health insurance cover
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 |
|---|---|---|
| Blood and/or tissue samplingfor patient and related person | Biological | – |
| high-throughput sequencingexome or whole genome sequencing | Genetic | – |
Primary outcome
Number of new genes or genetic abnormalities identified.
Time frame: through study completion, an average of 5 years
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 8 Dec 2025.
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases of Genetic Origin and Rare Forms of Common Diseases Suspected of Being Genetic in Origin, run by Centre Hospitalier Universitaire Dijon 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 7 inclusion and 1 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 8 Dec 2025. 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?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of new genes or genetic abnormalities identified. (time frame: through study completion, an average of 5 years). 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 8 Dec 2025.