NCT03287193 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).
| NCT ID | NCT03287193 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Centre Hospitalier Universitaire Dijon |
| Condition | Rare Diseases of Genetic Origin |
| Study Type | OBSERVATIONAL |
| Enrollment | 850 participants |
| Start Date | 2017-03-13 |
| Primary Completion | 2027-03 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 850 participants in total. It began in 2017-03-13 with a primary completion date of 2027-03.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility 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
Frequently Asked Questions
Who can join the NCT03287193 clinical trial?
This trial is open to participants of all sexes, studying Rare Diseases of Genetic Origin. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03287193 currently recruiting?
Yes, NCT03287193 is actively recruiting participants. Visit ClinicalTrials.gov or contact Centre Hospitalier Universitaire Dijon to inquire about joining.
Where is the NCT03287193 trial being conducted?
This trial is being conducted at Dijon, France.
Who is sponsoring the NCT03287193 clinical trial?
NCT03287193 is sponsored by Centre Hospitalier Universitaire Dijon. The trial plans to enroll 850 participants.
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