OTOCONEX: OTOferlin and CONnEXine natural history study

  • Research type

    Research Study

  • Full title

    Longitudinal study of the natural history of two autosomal recessive non-syndromic deafness (DFNB1A and DFNB9) in children up to 16 years of age

  • IRAS ID

    307475

  • Contact name

    Robert Nash

  • Contact email

    robertnash@doctors.org.uk

  • Sponsor organisation

    Sensorion

  • Duration of Study in the UK

    4 years, 3 months, 30 days

  • Research summary

    This is a multicentre, international, prospective, longitudinal, non-comparative, low interventional, natural history study, aiming to describe the natural history and assess the short-term and long-term outcomes of deafness caused by mutations in GJB2 and OTOF genes and to describe genotypic and phenotypic characteristics of a population of children up to 10 years of age at selection.

    The study will be conducted in paediatric ear, nose and throat (ENT) units specialised in cochlear implant (CI) at approximately 14 sites in Europe and the United Kingdom.

    The study will include patients with a diagnosis of bilateral moderate to profound, sensorineural, non-syndromic hearing loss, with genotyping results showing mutation(s) in GJB2 or OTOF genes, male and female, aged ≤ 10 years, with and without CI and with pre-lingual and post-lingual hearing loss.

    The study will have a total duration of 4 years: the recrutement period will be 2 years and each participants will be followed up for 2 years after inclusion in the study.

  • REC name

    Wales REC 5

  • REC reference

    22/WA/0054

  • Date of REC Opinion

    25 Mar 2022

  • REC opinion

    Further Information Favourable Opinion