Mitochondrial DiseaseNCT00829270
Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
An observational study of Mitochondrial Disease, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mitochondrial Disease
- How many people
- 550 participants
- Where
- 1 siteFrance
- Study dates
- Mar 2009to Jul 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients presenting clinical features of mitchondrial diseases
Who may be able to join
- patients without deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
- patient with health insurance
Who cannot join
- patients with deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
- absence of patient consent
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques.
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.
Read more
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
- Medical subject headings
- Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| mitochondrial diseases diagnosis | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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"
Measured: 2 years
Secondary outcomes (1)
Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2009 (estimated)
- Study startMar 2009
- Primary completionJul 2012
- Study completionJul 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DiseaseStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 550 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Collaborators
- Ministry of Health, France
- Responsible party
- Sponsor
- Investigators
- Véronique PAQUIS-FLUCKINGER, Pr, Principal investigator, Centre Hospitalier Universitaire de Nice
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00829270
- Sponsor's protocol ID
- PSTIC Mitochips
- Status last verified
- Jan 2009
- First submitted
- 26 Jan 2009
- Last updated
- 18 Dec 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Dec 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques.
- ClinicalTrials.gov ID
- NCT00829270
- Acronym / sponsor ID
- PSTIC Mitochips
- Conditions
- Mitochondrial Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 550 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Collaborators
- Ministry of Health, France
- Study start
- Mar 2009
- Primary completion
- Jul 2012 (actual)
- Study completion
- Jul 2012 (actual)
- First posted
- 27 Jan 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| mitochondrial diseases diagnosis | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients presenting clinical features of mitchondrial diseases
Key inclusion criteria (2 listed)
- patients without deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
- patient with health insurance
Key exclusion criteria (2 listed)
- patients with deletion of mitochondrial disease and/or 3243, 8344 and 8993 mutation
- absence of patient consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
1 secondary outcome
Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Dec 2012.
Related trials for Mitochondrial Disease
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingPhase 1
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
Friedreich's Ataxia (FA)
Not yet recruitingObservational study
Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
MItochondrial Myopathies
Active, not recruiting
Efficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's Ataxia
Friedreich Ataxia
Recruiting
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
Friedreich's Ataxia, Motor Disorders
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Véronique PAQUIS-FLUCKINGER, Pr principal investigator
Centre Hospitalier Universitaire de Nice
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Disease, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Dec 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Dec 2012.