Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

550 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-03-31

Study Completion Date

2012-07-31

Brief Summary

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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

Detailed Description

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Conditions

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Mitochondrial Disease

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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mitochondrial diseases diagnosis

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* patients without deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
* patient with health insurance

Exclusion Criteria

* patients with deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
* absence of patient consent

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Véronique PAQUIS-FLUCKINGER, Pr

Role: PRINCIPAL_INVESTIGATOR

Centre Hospitalier Universitaire de Nice

Locations

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CHU de Nice - Medical genetics laboratory

Nice, , France

Site Status

Countries

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France

Other Identifiers

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PSTIC Mitochips

Identifier Type: -

Identifier Source: org_study_id