- ICH GCP
- US Clinical Trials Registry
- Klinisk forsøg NCT00829270
Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
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.
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
Studieoversigt
Status
Betingelser
Undersøgelsestype
Tilmelding (Faktiske)
Kontakter og lokationer
Studiesteder
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Nice, Frankrig, 06100
- CHU de Nice - Medical genetics laboratory
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Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
- Barn
- Voksen
- Ældre voksen
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Prøveudtagningsmetode
Studiebefolkning
Beskrivelse
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
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
Kohorter og interventioner
Gruppe / kohorte |
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mitochondrial diseases diagnosis
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Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Tidsramme |
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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"
Tidsramme: 2 years
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2 years
|
Sekundære resultatmål
Resultatmål |
Tidsramme |
---|---|
Evaluation of the benefit of the studiad strategy in comparison with standard diagnosis method in term of indirect costs
Tidsramme: 2 years
|
2 years
|
Samarbejdspartnere og efterforskere
Samarbejdspartnere
Efterforskere
- Ledende efterforsker: Véronique PAQUIS-FLUCKINGER, Pr, Centre Hospitalier Universitaire de Nice
Datoer for undersøgelser
Studer store datoer
Studiestart
Primær færdiggørelse (Faktiske)
Studieafslutning (Faktiske)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Skøn)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Skøn)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- PSTIC Mitochips
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