Status:
COMPLETED
Identification of New Candidate Genes in Patients With Mitochondrial Disease by High Resolution Chromosome Analysis on DNA Chip
Lead Sponsor:
Centre Hospitalier Universitaire de Nice
Conditions:
Mitochondrial Diseases
Eligibility:
All Genders
1+ years
Brief Summary
Mitochondrial diseases are complex diseases with great clinical and genetic heterogeneity and their diagnosis is difficult. The Medical Genetics Department includes among its activities the diagnosis...
Eligibility Criteria
Inclusion
- Patients with mitochondrial disease (clinical and histological criteria)
- Or Patients for whom an exome analysis has been performed, who are carriers of a pathogenic or probably pathogenic variant, in a heterozygous state, in an autosomal recessive transmission gene strongly candidate in view of the patient's clinic.
- Or patients for whom exome analysis did not reveal any pathogenic variant explaining the phenotype
Exclusion
- People hospitalized without consent;
- Phenotype not suggestive of mitochondrial disease
Key Trial Info
Start Date :
September 20 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 20 2022
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT03857880
Start Date
September 20 2020
End Date
March 20 2022
Last Update
November 18 2023
Active Locations (1)
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1
Nice hospital
Nice, France, 06000