Natural History in Children Up to 16 Years with Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes

NCT05402813 | Recruiting

• 1 other identifier: SENS-NH01
• Study Type: observational
• Target: 180
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.

Conditions

Sensorineural Hearing Loss, Bilateral; AUNB1; DFNB1A; Congenital Deafness; DFNB9; OTOF Gene Mutation; GJB2 Gene Mutation

Outcome Measures

Primary Outcomes (3)

• Audiological characteristics

  Pure Tone Audiometry, thresholds on 500, 1000, 2000, 4000 Hz Speech audiometry

  Up to 4 years

• Electrophysiological characteristics: ABR

  Auditory Brainstem Response, thresholds

  Up to 4 years

• Electrophysiological characteristics: OAE

  Otoacoustic Emissions thresholds

  Up to 4 years

Secondary Outcomes (2)

• Genotypic and phenotypic characterisation

  1 Day

• Hearing-related Quality of Life questionnaire

  Up to 4 years

Study Arms (3)

Cohort 1a

Patients without Cochlear Implant, with or without Hearing Aid(s) at study entry

Other: Pure Tone Audiometry Assessment; Other: Quality of Life Questionnaires

Cohort 1b

Patients receiving unilateral or bilateral Cochlear Implant(s) during the study period, after study entry

Other: Pure Tone Audiometry Assessment; Other: Quality of Life Questionnaires

Cohort 2

Patients with Cochlear Implant(s) (unilateral or bilateral) at study entry

Other: Pure Tone Audiometry Assessment; Other: Quality of Life Questionnaires

Interventions

Pure Tone Audiometry Assessment OTHER

Collection of Pure Tone Audiometry data performed in routine practice during study period

Cohort 1a; Cohort 1b; Cohort 2

Quality of Life Questionnaires OTHER

Collection of Quality of Life questionnaire's answers during study period

Cohort 1a; Cohort 1b; Cohort 2

Eligibility Criteria

• Age: Up to 16 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Male and female participants aged ≤ 16 years at selection, with a diagnosis of bilateral, moderate to profound, sensorineural, non-syndromic hearing loss, with genotyping results showing mutation(s) in GJB2 or OTOF genes, with and without cochlear implant (CI).

You may qualify if:

• Aged ≤ 16 years on the date of signed informed consent for cohort 1 and ≤ 10 years for cohort 2;
• With a diagnosis of non-syndromic, bilateral, mild to profound, sensorineural hearing loss (according to the American Speech Language-Hearing Association);
• With documented genotyping results showing mutation(s) in GJB2 or OTOF genes;
• Written informed consent as required by local regulations.
• Either without Cochlear Implant, or with unilateral or bilateral Cochlear Implant(s)

You may not qualify if:

• Other type of deafness, such as unilateral deafness, persistent conductive deafness, malformation syndrome, syndromic deafness, known familial deafness linked to mutations in other genes than OTOF or GJB2;
• Documented genotyping results showing pathogenic mutation(s) in other gene(s) than GJB2 or OTOF genes in the tested panel;
• Unable and/or unwilling to comply with all the protocol requirements and/or study procedures.

Sponsors & Collaborators

• Sensorion: lead

Study Sites (1)

Necker Hospital

Paris, France

RECRUITING

MeSH Terms

Conditions

Hearing Loss, Sensorineural; Deafness, Autosomal Recessive 1A

Condition Hierarchy (Ancestors)

Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Natalie LOUNDON, MD

  Necker Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lionel HOVSEPIAN, MD

CONTACT

+33 (0)7 86 31 13 76; lionel.hovsepian@sensorion-pharma.com

Géraldine HONNET, MD

CONTACT

geraldine.honnet@sensorion-pharma.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 16, 2022
• First Posted: June 2, 2022
• Study Start: November 18, 2022
• Primary Completion (Estimated): November 18, 2028
• Study Completion (Estimated): November 18, 2028
• Last Updated: February 14, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)