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

被引：1

作者：

Spyridakou, Chrysa ^{[1
,2
,3
,6
]}

Chan, John ^{[1
,3
]}

Tan, Jaclyn ^{[1
]}

Clement, Emma ^{[1
,4
]}

Nash, Robert ^{[1
,4
]}

Hall, Amanda ^{[5
]}

Mehta, Nishchay ^{[1
,2
,3
]}

Schilder, Anne G. M. ^{[1
,2
,3
]}

机构：

[1] niv Coll London Hosp, Biomed Res Ctr, Natl Inst Hlth Res, London, England

[2] UCL, Ear Inst, Fac Brain Sci, London, England

[3] Univ Coll London Hosp, Royal Natl ENT & Eastman Dent Hosp, London, England

[4] Great Ormond St Hosp Sick Children, London, England

[5] Aston Univ, Sch Life & Hlth Sci, Dept Audiol, Birmingham, England

[6] UCLH NHS Fdn Trust, Paediat Audiovestibular Med, 179a Tottenham Court Rd, London W1T 7PA, England

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2024年 / 177卷

关键词：

Otoferlin; Auditory neuropathy spectrum disorder; Gene therapy; Newborn hearing screening programme; CHILDREN; MUTATIONS; OUTCOMES; INFANTS;

D O I：

10.1016/j.ijporl.2024.111870

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

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.

引用

页数：6