Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
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
|Study Design:||Observational Model: Case-Only
Time Perspective: Cross-Sectional
|Official Title:||Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques.|
- Evaluation of the benefit and the cost of a mitochondrial disease diagnosis strategy based on the combined use of 2 techniques named "Surveyor Nuclease" and "Mitochip" [ Time Frame: 2 years ] [ Designated as safety issue: No ]
- Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs [ Time Frame: 2 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
patients presenting clinical features of mitochondrial diseases
|Study Start Date:||March 2009|
|Study Completion Date:||July 2012|
|Primary Completion Date:||July 2012 (Final data collection date for primary outcome measure)|
|mitochondrial diseases diagnosis|
|CHU de Nice - Medical genetics laboratory|
|Nice, France, 06100|
|Principal Investigator:||Véronique PAQUIS-FLUCKINGER, Pr||CHU de Nice|