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

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ClinicalTrials.gov Identifier: NCT00829270
Recruitment Status : Completed
First Posted : January 27, 2009
Last Update Posted : December 18, 2012
Sponsor:
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice

Brief Summary:

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 or disease
Mitochondrial Disease

Study Type : Observational
Actual Enrollment : 550 participants
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.
Study Start Date : March 2009
Actual Primary Completion Date : July 2012
Actual Study Completion Date : July 2012


Group/Cohort
mitochondrial diseases diagnosis



Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs [ Time Frame: 2 years ]

Biospecimen Retention:   Samples With DNA
patients presenting clinical features of mitochondrial diseases


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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients presenting clinical features of mitchondrial diseases
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00829270


Locations
France
CHU de Nice - Medical genetics laboratory
Nice, France, 06100
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
Ministry of Health, France
Investigators
Principal Investigator: Véronique PAQUIS-FLUCKINGER, Pr CHU de Nice

Responsible Party: Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT00829270     History of Changes
Other Study ID Numbers: PSTIC Mitochips
First Posted: January 27, 2009    Key Record Dates
Last Update Posted: December 18, 2012
Last Verified: January 2009

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolic Diseases