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

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ClinicalTrials.gov Identifier: NCT00831948
Recruitment Status : Unknown
Verified January 2009 by Centre Hospitalier Universitaire de Nice.
Recruitment status was:  Recruiting
First Posted : January 29, 2009
Last Update Posted : January 29, 2009
Sponsor:
Information provided by:

Study Description
Brief Summary:

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.


Condition or disease Intervention/treatment
Mitochondrial Diseases Diagnosis DNA Mutations Genetic: mitochondrial DNA mutations diagnosis

Study Design

Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
Study Start Date : December 2008


Groups and Cohorts

Group/Cohort Intervention/treatment
Mitochondrial disease
Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Genetic: mitochondrial DNA mutations diagnosis
Identification of large-scale mutations of POLG gene by QMPSF in patients with mitochondrial DNA instability.


Outcome Measures

Primary Outcome Measures :
  1. Improving the diagnosis of mitochondrial pathology [ Time Frame: 1 day ]

Eligibility Criteria

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Criteria

Inclusion Criteria:

  • Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00831948


Contacts
Contact: Cécile ROUZIER, MD 00-33(0)4.92.03.64.59 rouzier.c@chu-nice.fr

Locations
France
Centre Hospitalier Universitaire de Nice- Hôpital ARCHET 2 -Laboratoire de Génétique Médicale Recruiting
Nice, France, 06200
Contact: Cécile ROUZIER, MD    00-33 (0)4.92.03.64.59    rouzier.c@chu-nice.fr   
Principal Investigator: Cécile ROUZIER, MD         
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
Investigators
Principal Investigator: Cécile ROUZIER, MD Centre Hospitalier Universitaire
More Information

Responsible Party: Centre Hospitalier Universitaire de Nice, Département de la Recherche Clinique et de l'Innovation
ClinicalTrials.gov Identifier: NCT00831948     History of Changes
Other Study ID Numbers: 08-CIR-02- Dr ROUZIER
First Posted: January 29, 2009    Key Record Dates
Last Update Posted: January 29, 2009
Last Verified: January 2009

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolic Diseases