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). (DISCOVERY)

December 2, 2025 updated by: Centre Hospitalier Universitaire Dijon

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 Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

850

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Patients followed at the Centre de Référence Anomalies du Développement du CHU de Dijon

Description

Inclusion Criteria:

-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

Exclusion Criteria:

  • Patients without national health insurance cover

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of new genes or genetic abnormalities identified.
Time Frame: through study completion, an average of 5 years
through study completion, an average of 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire Dijon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 13, 2017

Primary Completion (Estimated)

March 1, 2027

Study Completion (Estimated)

December 1, 2027

Study Registration Dates

First Submitted

August 22, 2017

First Submitted That Met QC Criteria

September 18, 2017

First Posted (Actual)

September 19, 2017

Study Record Updates

Last Update Posted (Actual)

December 8, 2025

Last Update Submitted That Met QC Criteria

December 2, 2025

Last Verified

October 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • OLIVIER-FAIVRE 2016

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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