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).
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Blood and/or tissue sampling, high-throughput sequencing.
- Who it may be relevant to
- Registry conditions: Rare Diseases of Genetic Origin, Rare Forms of Common Diseases Suspected of Being Genetic in Origin. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Biological Blood and/or tissue sampling
for patient and related person - Genetic high-throughput sequencing
exome or whole genome sequencing
Primary outcome measures
- Number of new genes or genetic abnormalities identified. [Time frame: through study completion, an average of 5 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Chu Dijon Bourogne — Dijon
Identifiers
NCT: NCT03287193 · OLIVIER-FAIVRE 2016