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

This study has been completed.
Sponsor:
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier:
NCT00829270
First received: January 26, 2009
Last updated: December 17, 2012
Last verified: January 2009
  Purpose

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
Mitochondrial Disease

Study Type: Observational
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.

Resource links provided by NLM:


Further study details as provided by Centre Hospitalier Universitaire de Nice:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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


Enrollment: 550
Study Start Date: March 2009
Study Completion Date: July 2012
Primary Completion Date: July 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts
mitochondrial diseases diagnosis

  Eligibility

Genders Eligible for Study:   Both
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
  More Information

No publications provided

Responsible Party: Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT00829270     History of Changes
Other Study ID Numbers: PSTIC Mitochips
Study First Received: January 26, 2009
Last Updated: December 17, 2012
Health Authority: France: French Data Protection Authority

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolic Diseases

ClinicalTrials.gov processed this record on August 25, 2014