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Report for Mutation P51S

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Systematic Review of Phenotype Characteristics of DFNA9 Caused by the Pro51 Ser (P51S) Mutation in COCH

Gene mutations account for more than 60% of congenital sensorineural hearing loss (SNHL) in Western Countries. Hereditary SNHL does not necessarily start at birth, however, as many causative gene mutations only begin to express at much later ages, such as for example DFNA9, also known as the ninth discovered autosomal dominant SNHL. It is characterized by a late onset of rapid progressive SNHL together with accompanying vestibular impairment. The first reported DFNA9 patients were carrying the c.151 C>T mutation in COCH, which is the result of a substitution of cytosine by thymine nucleotide of the 151th base pair (c.151C>T). At protein level, this missense point mutation induces a mistranslation to a serine instead of a proline amino-acid (p.Pro51Ser, (P51S)), producing mutant cochlin that cause a dominant negative effect due to misfolding. In the perspective of promising future hearing and vestibular treatment developments, such as gene therapy, stem cell therapy, neural regeneration, in association with cochlear and/or vestibular implantation, a more accurate understanding of the onset of the very first signs of the auditory and vestibular deterioration is important. However, in early stages these first signs of impairment are very discrete and pre-symptomatic. The aim of this systematic review is to identify studies related to DFNA9, caused by the P51S COCH variant, describing detailed genotype-phenotype correlation in relation to the age and to investigate the age of onset of the SNHL and peripheral vestibular function as well as their progression in relation to age.

NCT03707756
Conditions
  1. DFNA9

Systematic Review of Phenotype Characteristics of DFNA9 Caused by the Pro51 Ser (P51S) Mutation in COCH. --- P51S ---

Systematic Review of Phenotypical Characteristics of P51S COCH Mutation Gene mutations account for more than 60% of congenital sensorineural hearing loss (SNHL) in Western Countries. --- P51S ---

At protein level, this missense point mutation induces a mistranslation to a serine instead of a proline amino-acid (p.Pro51Ser, (P51S)), producing mutant cochlin that cause a dominant negative effect due to misfolding. --- P51S ---

The aim of this systematic review is to identify studies related to DFNA9, caused by the P51S COCH variant, describing detailed genotype-phenotype correlation in relation to the age and to investigate the age of onset of the SNHL and peripheral vestibular function as well as their progression in relation to age. --- P51S ---

Age of onset sensorineural hearing loss (years) in P51S COCH mutation carriers. --- P51S ---

Annual threshold deterioration (decibel hearing loss per year) in P51S COCH mutation carriers. --- P51S ---

Age of onset vestibular dysfunction (time constant T (seconds) in P51S COCH mutation carriers. --- P51S ---

Annual vestibular deterioration (seconds per year) in P51S COCH mutation carriers. --- P51S ---

Pure tone average (PTA) in decibel hearing loss (dB HL) of P51S COCH mutations carriers. --- P51S ---

Age-related typical audiogram (ARTA) of P51S COCH mutation carriers. --- P51S ---

Time constant 'T' with velocity-step test(VST) (seconds) in P51S COCH mutation carriers. --- P51S ---

summation of gain in caloric test of electronystagmography (ENG) (degrees per second) of P51S COCH mutation carriers. --- P51S ---

Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership DFNA9 The strategy and methodology used for the systematic review was based on the PRISMA Statement (Preferred Reporting Items for Systematic Reviews and Meta-Analysis Medline, PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, ISI Web of Knowledge and Web of Science were searched. --- P51S ---

Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership DFNA9 The strategy and methodology used for the systematic review was based on the PRISMA Statement (Preferred Reporting Items for Systematic Reviews and Meta-Analysis Medline, PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, ISI Web of Knowledge and Web of Science were searched. --- P51S --- --- P51S ---

Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership DFNA9 The strategy and methodology used for the systematic review was based on the PRISMA Statement (Preferred Reporting Items for Systematic Reviews and Meta-Analysis Medline, PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, ISI Web of Knowledge and Web of Science were searched. --- P51S --- --- P51S --- --- P51S ---

Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership Inclusion Criteria: - P51S carriership Exclusion Criteria: - no P51S carriership DFNA9 The strategy and methodology used for the systematic review was based on the PRISMA Statement (Preferred Reporting Items for Systematic Reviews and Meta-Analysis Medline, PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, ISI Web of Knowledge and Web of Science were searched. --- P51S --- --- P51S --- --- P51S --- --- P51S ---

Primary Outcomes

Description: Age of onset sensorineural hearing loss (years) in P51S COCH mutation carriers

Measure: age of onset sensorineural hearing loss

Time: 10 years

Description: Annual threshold deterioration (decibel hearing loss per year) in P51S COCH mutation carriers

Measure: annual threshold deterioration

Time: 10 years

Description: Age of onset vestibular dysfunction (time constant T (seconds) in P51S COCH mutation carriers

Measure: age of onset vestibular dysfunction

Time: 10 years

Description: Annual vestibular deterioration (seconds per year) in P51S COCH mutation carriers

Measure: annual vestibular deterioration rate

Time: 10 years

Description: Pure tone average (PTA) in decibel hearing loss (dB HL) of P51S COCH mutations carriers

Measure: Pure Tone Average (PTA)

Time: 10 years

Description: Age-related typical audiogram (ARTA) of P51S COCH mutation carriers

Measure: Age-Related Typical Audiogram (ARTA)

Time: 10 years

Description: Time constant 'T' with velocity-step test(VST) (seconds) in P51S COCH mutation carriers

Measure: Time Constant 'T'

Time: 10 years

Description: summation of gain in caloric test of electronystagmography (ENG) (degrees per second) of P51S COCH mutation carriers

Measure: gain of caloric test of ENG

Time: 10 years

2 Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene.

DFNA9 (Deafness Autosomal Dominant 9) is an autosomal dominant hereditary hearing loss which is associated with vestibular deterioration. The most recent genotype-phenotype correlation studies have been conducted more than 15 years ago. Meanwhile, emerging and valuable vestibular tests have been added to the vestibular test battery. These tests were not available at the time of the correlation studies. The aim of this study is to carry out a prospective cross-sectional study on symptomatic and presymptomatic affected carriers of the Pro51Ser (P51S) Coagulation Factor C Homology (COCH) mutation in order to correlate vestibular data using the complete vestibular test battery with the known data on hearing and vestibular function in relation to age.

NCT03716908
Conditions
  1. Vestibular Diseases
  2. DFNA9
MeSH:Vestibular Diseases

Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene.. Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients DFNA9 (Deafness Autosomal Dominant 9) is an autosomal dominant hereditary hearing loss which is associated with vestibular deterioration. --- Pro51Ser ---

Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene.. Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients DFNA9 (Deafness Autosomal Dominant 9) is an autosomal dominant hereditary hearing loss which is associated with vestibular deterioration. --- Pro51Ser --- --- P51S ---

The aim of this study is to carry out a prospective cross-sectional study on symptomatic and presymptomatic affected carriers of the Pro51Ser (P51S) Coagulation Factor C Homology (COCH) mutation in order to correlate vestibular data using the complete vestibular test battery with the known data on hearing and vestibular function in relation to age. --- Pro51Ser ---

The aim of this study is to carry out a prospective cross-sectional study on symptomatic and presymptomatic affected carriers of the Pro51Ser (P51S) Coagulation Factor C Homology (COCH) mutation in order to correlate vestibular data using the complete vestibular test battery with the known data on hearing and vestibular function in relation to age. --- Pro51Ser --- --- P51S ---

Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Vestibular Diseases DFNA9 Vestibular Diseases Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function. --- P51S ---

Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Vestibular Diseases DFNA9 Vestibular Diseases Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function. --- P51S --- --- P51S ---

Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Vestibular Diseases DFNA9 Vestibular Diseases Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function. --- P51S --- --- P51S --- --- P51S ---

Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Vestibular Diseases DFNA9 Vestibular Diseases Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function. --- P51S --- --- P51S --- --- P51S --- --- P51S ---

Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Inclusion Criteria: - subject must be 18 year of older - subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation Exclusion Criteria: - subject is younger than 18 years - subject is not a family member of the pedigree's proband(s) carrying a P51S - subject cannot undergo investigations (medical and/or mental reasons) - subject is not willing to be enrolled into the study - subject suffers other concomitant middle or inner ear disease - subject has undergone middle ear or inner ear surgery - subject suffers other concomitant vestibular disease than DFNA9 - subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example) Vestibular Diseases DFNA9 Vestibular Diseases Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function. --- P51S --- --- P51S --- --- P51S --- --- P51S --- --- P51S ---

For this reason, a prospective cross-sectional study on pre- as well as symptomatic DFNA9 patients carrying the Pro51Ser (P51S) mutation in COCH gene is being carried out, in order to gain more realistic data on vestibular dysfunction, consisting of pure tone audiometry and a comprehensive vestibular test battery, including electro- or videonystagmography (VNG), C- and O-Vestibular-evoked myogenic potential (VEMP) tests, video Head Impulse Test (vHIT) and questionnaires (DHI (Dizziness handicap Index), oscillopsia questionnaire (OS), Quality of Life Questionnaire (EQ-5D-5L), activities-specific balance confidence (ABC) scale. --- Pro51Ser ---

For this reason, a prospective cross-sectional study on pre- as well as symptomatic DFNA9 patients carrying the Pro51Ser (P51S) mutation in COCH gene is being carried out, in order to gain more realistic data on vestibular dysfunction, consisting of pure tone audiometry and a comprehensive vestibular test battery, including electro- or videonystagmography (VNG), C- and O-Vestibular-evoked myogenic potential (VEMP) tests, video Head Impulse Test (vHIT) and questionnaires (DHI (Dizziness handicap Index), oscillopsia questionnaire (OS), Quality of Life Questionnaire (EQ-5D-5L), activities-specific balance confidence (ABC) scale. --- Pro51Ser --- --- P51S ---

Primary Outcomes

Description: pure tone audiometry, decibel hearing loss (dB HL)

Measure: hearing threshold

Time: 1 year

Description: video Head Impulse test, gain (eye movement versus head movement)

Measure: video HIT

Time: 1 year

Secondary Outcomes

Description: c- and o-VEMP tests (vestibular-evoked myogenic potentials): threshold (decibel sound pressure level: dB SPL or dB HL)

Measure: VEMP

Time: 1 year

Description: DHI (dizziness handicap index): scores the degree of imbalance perception of the patient, the higher the score, the higher the imbalance perception; normative score below 10

Measure: DHI questionnaire

Time: 1 year

Description: A questionnaire assessing oscillopsia severity for patients with bilateral vestibulopathy and patients with unilateral vestibular lesions. Oscillopsia was defined as a "sensation that the visual environment is moving when it's not." The 9-item questionnaire investigates oscillopsia frequency in different situations encountered in daily life. Each item was scored 1 (never), 2 (seldom), 3 (sometimes), 4 (often), or 5 (always). Scores were averaged to provide an oscillopsia severity score ranging from 1 to 5. A mean score higher than 3 is considered to indicate moderate to extreme oscillopsia severity.

Measure: OS questionnaire

Time: 1 year

Description: ABC activities specific balance confidence scale to asses individual's confidence in performing daily activities , scores from 0-100%, normative values >80%

Measure: ABC questionnaire

Time: 1 year

Description: Quality of life questionnaire:EQ-5D is a standardised measure of health status developed by the EuroQol Group in order to provide a simple, generic measure of health for clinical and economic appraisal; 5 dimensions: anxiety/depression, discomfort/pain, usual activities, mobility and self-care are evaluated in 5 levels (ranging from no problems (level 1) to extreme problems (level 5) and a Vertical Visual Analogue Scale (VAS) EQ-VAS ranging from 0 (worst health) to 100 (best health), convertible to an index value. result presentation in EQ-5D (dimensions), EQ-VAS and EQ-5D-5L index values with normative values per age group, all as a measure of central tendency and a measure of dispersion using mean values and standard deviation per age group

Measure: EQ-5D-5L questionnaire

Time: 1 year

Description: Caloric response using 4 successive water irrigation at 30 and 44 degrees Celsius , summation of the gain of the slow phase of the elicited nystagmus of all 4 irrigations (degrees per second) , normative values to be established for each vestibular laboratory in healthy control subjects

Measure: Caloric response

Time: 1 year

Description: Sinusoidal harmonic acceleration test (SHAT) of rotatory chair in the dark with open eyes, degrees per second, normative values to be established for each vestibular laboratory on healthy control subjects

Measure: SHAT

Time: 1 year


HPO Nodes