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Sponsors and Collaborators: |
Centre Hospitalier Universitaire de Nice Ministry of Health, France |
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Information provided by: | Centre Hospitalier Universitaire de Nice |
ClinicalTrials.gov Identifier: | NCT00829270 |
Mitochondrial diseases are the most frequent metabolic diseases (2.5 persons among 10 000) and are clinically heterogeneous making diagnosis particularly challenging for clinicians. Molecular analysis of mitochondrial DNA (mtDNA) is a critical step in diagnosis and genetic counselling of respiratory chain defects. DNA sequencing remains the gold standard but it is time-consuming and fails to detect mutations that may be present at a low heteroplasmic level (20% or below); therefore the diagnosis is yet based on the detection of a few number of pathogenic mutations. The present study aims to evaluate the benefit and the cost of a diagnosis strategy based on the combined use of 2 techniques named "Surveyor Nuclease" and "Mitochip". Surveyor nuclease is a mismatch-specific DNA endonuclease that will be used for screening the entire mtDNA in order to identify heteroplasmic mutations. In absence of any identified mutation, another technique based on the use an oligonucleotide sequencing microarray (MitoChip) will be performed for the identification of homoplasmic mutations. Mitochip is an array-based sequencing platform for rapid and high-throughput analysis of mitochondrial DNA. The economical study will compare the cost of these techniques to the standard diagnosis method in term of direct and indirect costs
Condition |
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Mitochondrial Disease |
Study Type: | Observational |
Study Design: | Case-Only, Cross-Sectional |
Official Title: | Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques. |
patients presenting clinical features of mitochondrial diseases
Estimated Enrollment: | 1000 |
Study Start Date: | March 2009 |
Groups/Cohorts |
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mitochondrial diseases diagnosis |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Patients presenting clinical features of mitchondrial diseases
Inclusion Criteria:
Exclusion Criteria:
Contact: Véronique PAQUIS-FLUCKINGER, Pr | 00-33-(0)4.92.03.62.43 | paquis@unice.fr |
France | |
CHU de Nice - Medical genetics laboratory | |
Nice, France, 06100 | |
CHU de Nice - Medical genetics laboratory | |
Nice, France, 06100 |
Principal Investigator: | Véronique PAQUIS-FLUCKINGER, Pr | CHU de Nice |
Responsible Party: | CHU de Nice ( Département de la recherche clinique et de l'innovation ) |
Study ID Numbers: | PSTIC Mitochips |
Study First Received: | January 26, 2009 |
Last Updated: | January 26, 2009 |
ClinicalTrials.gov Identifier: | NCT00829270 History of Changes |
Health Authority: | France: French Data Protection Authority |
Metabolic Diseases Mitochondrial Diseases Metabolic Disorder |
Metabolic Diseases Mitochondrial Diseases |