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

NCT00829270 | Completed

• 1 other identifier: PSTIC Mitochips
• Study Type: observational
• Target: 550
• Locations: 1 country
• Sites: 1

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

Conditions

Mitochondrial Disease

Outcome Measures

Primary Outcomes (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"

  2 years

Secondary Outcomes (1)

• Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs

  2 years

Study Arms (1)

mitochondrial diseases diagnosis

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients presenting clinical features of mitchondrial diseases

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead
• Ministry of Health, France: collaborator

Study Sites (1)

CHU de Nice - Medical genetics laboratory

Nice, 06100, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

patients presenting clinical features of mitochondrial diseases

MeSH Terms

Conditions

Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Véronique PAQUIS-FLUCKINGER, Pr

  Centre Hospitalier Universitaire de Nice

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2009
• First Posted: January 27, 2009
• Study Start: March 1, 2009
• Primary Completion: July 1, 2012
• Study Completion: July 1, 2012
• Last Updated: December 18, 2012

Record last verified: 2009-01

Locations

FR (1)