Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.

The recruitment status of this study is unknown because the information has not been verified recently.
Verified January 2009 by Centre Hospitalier Universitaire de Nice.
Recruitment status was  Recruiting
Sponsor:
Information provided by:
Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier:
NCT00831948
First received: January 28, 2009
Last updated: NA
Last verified: January 2009
History: No changes posted

January 28, 2009
January 28, 2009
December 2008
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Improving the diagnosis of mitochondrial pathology [ Time Frame: 1 day ] [ Designated as safety issue: No ]
Same as current
No Changes Posted
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Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.

Mitochondrial diseases are a heterogeneous group caused by genetic defects in mitochondrial DNA or in nuclear genes. POLG is the most frequently involved gene in mtDNA instability diseases resulting in mtDNA multiple deletion and/or depletion. It encodes the DNA polymerase gamma (POLγ), the only known DNA polymerase found in mammalian mitochondria. Mutations in POLG could explain 45% of familial progressive external ophtalmoplegia associated with multiple mtDNA deletions. However, in more than 70%, the analysis of the genes involved in mtDNA instability remains unsuccessful.

To date, these genes are screened by sequencing methods that are not able to detect large-scale rearrangements. In order to detect possible large-scale rearrangements, the investigators propose to develop a new assay based on QMPSF (Quantitative Multiplex PCR of Short fluorescent Fragments) able to detect exon deletions and duplications. the investigators propose to screen the POLG gene by QMPSF in at least twenty patients with either no mutation or only one mutation detected in POLG and no mutation in other genes such as TWINKLE and ANT1.

This study would allow the investigators to know if large-scale rearrangements occur in the POLG gene and to estimate their frequency in patients with mtDNA instability. These data are important to know if the sequencing analysis of POLG should be completed by the screening for partial deletions and duplications to ensure an accurate molecular diagnosis of these syndromes. Moreover, this method could be extended to ANT1 and TWINKLE genes.

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Observational
Observational Model: Case-Only
Time Perspective: Cross-Sectional
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Non-Probability Sample

Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques

  • Mitochondrial Diseases
  • Diagnosis
  • DNA Mutations
Genetic: mitochondrial DNA mutations diagnosis
Identification of large-scale mutations of POLG gene by QMPSF in patients with mitochondrial DNA instability.
Mitochondrial disease
Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Intervention: Genetic: mitochondrial DNA mutations diagnosis
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
20
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Inclusion Criteria:

  • Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Both
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No
Contact: Cécile ROUZIER, MD 00-33(0)4.92.03.64.59 rouzier.c@chu-nice.fr
France
 
NCT00831948
08-CIR-02- Dr ROUZIER
No
Centre Hospitalier Universitaire de Nice, Département de la Recherche Clinique et de l'Innovation
Centre Hospitalier Universitaire de Nice
Not Provided
Principal Investigator: Cécile ROUZIER, MD Centre Hospitalier Universitaire
Centre Hospitalier Universitaire de Nice
January 2009

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP