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

Mitochondrial Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00829270
• Other study ID #: PSTIC Mitochips
• Status: Completed
• Phase: N/A
• First received: January 26, 2009
• Last updated: December 17, 2012
• Start date: March 2009
• Est. completion date: July 2012

Study information

• Verified date: January 2009
• Source: Centre Hospitalier Universitaire de Nice
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: French Data Protection Authority
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 550
• Est. completion date: July 2012
• Est. primary completion date: July 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Mitochondrial Disease
• Mitochondrial Diseases

Locations

Country	Name	City	State
France	CHU de Nice - Medical genetics laboratory	Nice

Sponsors (2)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Nice	Ministry of Health, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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"		2 years	No
Secondary	Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs		2 years	No