Mitochondrial Genetics of Presbycusis (MITOPRES)

• ClinicalTrials.gov Identifier: NCT03720964
• Recruitment Status: Unknown
• First Posted: October 26, 2018
• Last Update Posted: April 11, 2019
• Sponsor: University Hospital, Angers
• Information provided by (Responsible Party): University Hospital, Angers

Tracking Information

• First Submitted Date: October 24, 2018
• First Posted Date: October 26, 2018
• Last Update Posted Date: April 11, 2019
• Estimated Study Start Date: April 2019
• Estimated Primary Completion Date: November 2022 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: October 24, 2018)

identification of mitochondrial mutations associated with presbycusis [ Time Frame: the analysis will be conducted at the end of the inclusion of the 200 patients ]

Enrichment analysis will be perfomed with CHI2 test after Benjamini correction.

• Original Primary Outcome Measures: Same as current

Current Secondary Outcome Measures (submitted: April 9, 2019)

• identification of genomic variants associated with presbycusis [ Time Frame: the analysis will be conducted at the end of the inclusion of the 200 patients ]
  enrichment of genomic variants will be analysed
• identification of DNA variants associated with environmental susceptibility [ Time Frame: the analysis will be conducted at the end of the inclusion of the 200 patients ]
  subgroup analysis will be performed in accordance with environmental exposition

Original Secondary Outcome Measures (submitted: October 24, 2018)

• identification of genomic variants associated with presbycusis [ Time Frame: the analysis will be conducted at the end of the inclusion of the 200 patients ]
• identification of DNA variants associated with environmental susceptibility [ Time Frame: the analysis will be conducted at the end of the inclusion of the 200 patients ]

Current Other Pre-specified Outcome Measures (submitted: April 9, 2019)

identification of clinical features predicting some presbycusis forms [ Time Frame: the analysis will be conducted at the end of the inclusion of the 200 patients ]

analysis of audiometric data after genetic analysis will be performed

• Original Other Pre-specified Outcome Measures (submitted: October 24, 2018): identification of clinical features predicting some presbycusis forms [ Time Frame: the analysis will be conducted at the end of the inclusion of the 200 patients ]

Descriptive Information

• Brief Title: Mitochondrial Genetics of Presbycusis
• Official Title: Mitochondrial Genetics of Presbycusis
• Brief Summary: The main goal of this study is to identify mitochondrial mutations associated with presbycusis. Patients affected by severe presbycusis and normal hearing controls (according to ISO7029 norm) will be enrolled if satisfying inclusion criteria (aged from 40 to 80 years old) in existing biocollections in the University Hospital of Angers. After DNA extraction, the mitochondrial genome will be sequenced and data in silico analysed.

Detailed Description

The study will be proposed to patients consulting in the ENT department of the University Hospital of Angers. After clinical examination and audiometry recording, the eligibility criteria will be checked and inclusion in biocollections proposed. Presbycusis affected subjects will be enrolled in "Mitochondrial Disease biocollection" and normal hearing controls in "Healthy Volunteer biocollection". These biocollections have been approved by the board comitee "Centre de Protection des Personnes".

After DNA extraction and mitochondrial sequencing, candidate variants will be selected by in silico analysis. The presence of mitochondrial variants in both groups (presbycusis and control) will be compared in multivariate analysis if needed.

The nuclear DNA may be sequenced in order to complete the previous analysis and look for any candidate variant .

• Study Type: Observational
• Study Design: Observational Model: Case-Control; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples With DNA

Description:

DNA extracted from blood and urine will be stored in "Centre de Ressources Biologiques" as planed in biocollections "maladies mitochondriales" and "volontaires sains"

• Sampling Method: Probability Sample
• Study Population: The study is proposed to patients consulting for hearing evaluation in ENT department of University Hospital of Angers.

Condition

• Presbycusis
• Age Related Hearing Loss

• Intervention: Not Provided

Study Groups/Cohorts

• presbycusis affected patients
  affected by a more severe age related hearing loss than expected according to the norm ISO 7029
• controls
  not affected by age related hearing loss according to the norm ISO 7029

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Unknown status
• Estimated Enrollment (submitted: October 24, 2018): 200
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: November 2023
• Estimated Primary Completion Date: November 2022 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

• age related hearing loss more severe than the predicted hearing thresholds according to the norm ISO7029, for the presbycusis population;
• normal hearing according to norm ISO7029 for the control population

Exclusion Criteria:

• deafness diagnosed before 40 years old
• exclusion criteria of one of the biocollection

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 40 Years to 80 Years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: France

Administrative Information

• NCT Number: NCT03720964
• Other Study ID Numbers: 49RC18_0148
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: University Hospital, Angers
• Original Responsible Party: Same as current
• Current Study Sponsor: University Hospital, Angers
• Original Study Sponsor: Same as current
• Collaborators: Not Provided
• Investigators: Not Provided
• PRS Account: University Hospital, Angers
• Verification Date: April 2019