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NCT03287193 | RECRUITING | Rare Diseases of Genetic Origin

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).
Sponsor:

Dijon University Hospital Center

Brief 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. 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.

Condition or disease

Rare Diseases of Genetic Origin

Rare Forms of Common Diseases Suspected of Being Genetic in Origin

Intervention/treatment

Blood and/or tissue sampling

high-throughput sequencing

Study Type : OBSERVATIONAL
Estimated Enrollment : 850 participants
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).
Actual Study Start Date : 2017-03-13
Estimated Primary Completion Date : 2027-03
Estimated Study Completion Date : 2027-12

Information not available for Arms and Intervention/treatment

Ages Eligible for Study:
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
Criteria
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
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).

Location Details

NCT03287193

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How to Participate

Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

Locations

RECRUITING

France,

Chu Dijon Bourogne

Dijon, France, 21000