Mitochondrial DiseasesNCT00831948
Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
An observational study of Mitochondrial Diseases and Diagnosis, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mitochondrial Diseases, Diagnosis, DNA Mutations
- What is being tested?
- mitochondrial DNA mutations diagnosis
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- Dec 2008to not given
- 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 already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Who may be able to join
- Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Centre Hospitalier Universitaire de Nice- Hôpital ARCHET 2 -Laboratoire de Génétique Médicale
Nice, 06200
Cécile ROUZIER, MD, 00-33 (0)4.92.03.64.59, rouzier.c@chu-nice.fr
Cécile ROUZIER, MD
About this study
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.
- Conditions
- Mitochondrial Diseases, Diagnosis, DNA Mutations
- Being tested
- mitochondrial DNA mutations diagnosis
- Medical subject headings
- Mitochondrial Diseases, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
mitochondrial DNA mutations diagnosisGenetic
Identification of large-scale mutations of POLG gene by QMPSF in patients with mitochondrial DNA instability.
| Study group | Role | What they receive |
|---|---|---|
| Mitochondrial disease | Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques Receives: Genetic: mitochondrial DNA mutations diagnosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Improving the diagnosis of mitochondrial pathology
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jan 2009 (estimated)
- Study startDec 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DiseasesStudies 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
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Investigators
- Cécile ROUZIER, MD, Principal investigator, Centre Hospitalier Universitaire
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00831948
- Sponsor's protocol ID
- 08-CIR-02- Dr ROUZIER
- Status last verified
- Jan 2009
- First submitted
- 28 Jan 2009
- Last updated
- 29 Jan 2009
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jan 2009. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
- ClinicalTrials.gov ID
- NCT00831948
- Acronym / sponsor ID
- 08-CIR-02- Dr ROUZIER
- Conditions
- Mitochondrial Diseases, Diagnosis, DNA Mutations
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- Dec 2008
- First posted
- 29 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 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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mitochondrial disease | – | Genetic: mitochondrial DNA mutations diagnosisPatients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Key inclusion criteria (1 listed)
- Patients already diagnosed for mitochondrial pathology without mtDNA mutations yet detected by current diagnostic techniques
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| mitochondrial DNA mutations diagnosisIdentification of large-scale mutations of POLG gene by QMPSF in patients with mitochondrial DNA instability. | Genetic | Mitochondrial disease |
Primary outcome
Improving the diagnosis of mitochondrial pathology
Time frame: 1 day
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jan 2009.
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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.
Cécile ROUZIER, MD principal investigator
Centre Hospitalier Universitaire
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 Diseases and Diagnosis, 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 1 inclusion and 0 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: status not confirmed, as of the sponsor's last update on 29 Jan 2009. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Cécile ROUZIER, MD (00-33(0)4.92.03.64.59, rouzier.c@chu-nice.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Improving the diagnosis of mitochondrial pathology (time frame: 1 day). 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 29 Jan 2009.