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Preparing for Otoferlin gene therapy trials: A survey of NHS Paediatric Audiology and Cochlear Implant services on diagnosis and management of Auditory Neuropathy Spectrum Disorder.
Spyridakou, Chrysa; Chan, John; Tan, Jaclyn; Clement, Emma; Nash, Robert; Hall, Amanda; Mehta, Nishchay; Schilder, Anne Gm.
Afiliação
  • Spyridakou C; National Institute for Health Research University College London Hospitals Biomedical Research Centre, London, United Kingdom; Ear Institute, Faculty of Brain Sciences, University College London, London, United Kingdom; Royal National ENT and Eastman Dental Hospitals, University College London Hospi
  • Chan J; National Institute for Health Research University College London Hospitals Biomedical Research Centre, London, United Kingdom; Royal National ENT and Eastman Dental Hospitals, University College London Hospitals, London, United Kingdom.
  • Tan J; National Institute for Health Research University College London Hospitals Biomedical Research Centre, London, United Kingdom.
  • Clement E; National Institute for Health Research University College London Hospitals Biomedical Research Centre, London, United Kingdom; Great Ormond Street Hospital for Children, London, United Kingdom.
  • Nash R; National Institute for Health Research University College London Hospitals Biomedical Research Centre, London, United Kingdom; Great Ormond Street Hospital for Children, London, United Kingdom.
  • Hall A; Department of Audiology, School of Life and Health Sciences, Aston University, Birmingham, United Kingdom.
  • Mehta N; National Institute for Health Research University College London Hospitals Biomedical Research Centre, London, United Kingdom; Ear Institute, Faculty of Brain Sciences, University College London, London, United Kingdom; Royal National ENT and Eastman Dental Hospitals, University College London Hospi
  • Schilder AG; National Institute for Health Research University College London Hospitals Biomedical Research Centre, London, United Kingdom; Ear Institute, Faculty of Brain Sciences, University College London, London, United Kingdom; Royal National ENT and Eastman Dental Hospitals, University College London Hospi
Int J Pediatr Otorhinolaryngol ; 177: 111870, 2024 Feb.
Article em En | MEDLINE | ID: mdl-38290274
ABSTRACT

OBJECTIVES:

Gene therapy for monogenic hearing loss is on the horizon. The first trials in patients with Auditory Neuropathy Spectrum Disorder (ANSD) due to pathogenic variants in the Otoferlin (OTOF) gene will open this year. In the UK, the new NHS Genomic Medicine Service (GMS) offers genetic testing in each child diagnosed with congenital or early onset sensorineural hearing loss. This survey study aims to map preexisting clinical pathways for the diagnosis and management of children with ANSD and identify opportunities for improvement in early identification of OTOF- related ANSD.

METHODS:

A Google form with 24 questions in English covering the ANSD clinical pathway was developed with clinicians involved in the diagnosis and management ANSD. The survey was disseminated via email to all Lead clinicians of NHS Tertiary Paediatric Audiology and Cochlear Implant Services within the UK.

RESULTS:

Data was received from 27 (34 %) NHS Tertiary Paediatric Audiology Services and 8 (n = 57 %) Paediatric Cochlear Implant Services. Services follow existing national guidance and provide multidisciplinary care with structured patient pathways for referral, diagnosis, and management of children with ANSD and multidisciplinary input throughout. Clinicians are aware of the genetic causes of ANSD and new processes for genetic testing, but do not uniformly refer children with ANSD for testing for OTOF pathogenic variants. As such, they had difficulty estimating numbers of children with OTOF pathogenic variants under their care.

CONCLUSION:

Those results highlight the urgency of implementing hearing gene panel sequencing for all children with ANSD to provide opportunities for early diagnosis and candidacy for OTOF gene therapy trials.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Perda Auditiva Central / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Guideline / Qualitative_research / Screening_studies Limite: Child / Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Perda Auditiva Central / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Guideline / Qualitative_research / Screening_studies Limite: Child / Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article