DeCure for Autosomal dominant nonsyndromic hearing loss 28

To date, 119 nonsyndromic genes have been associated with hearing loss, and hundreds of syndromic causes include hearing loss as part of the clinical phenotype. Identifying hearing loss genes together with clinical characteristics yields a more accurate diagnosis and prognosis. A clinical genetic study of 144 patients with nonsyndromic hearing loss established sex distribution, type, degree, symmetry, laterality, progression, aetiology, and, when possible, inheritance pattern. No drug treatment is mentioned in any of these abstracts.

For the specific subtype DFNB7/11, caused by pathogenic variants in the TMC1 gene, more than 100 pathogenic or likely pathogenic variants have been reported. The prevailing auditory phenotype is congenital, profound, bilateral hearing loss. In a single Italian clinic, DFNB7/11 was diagnosed in only 3 patients from 2 non-consanguineous families; a novel disease-causing variant, c.962G>A p.(Trp321*), was detected. All three children showed prelingual, severe-to-profound hearing loss. After cochlear implantation, they showed an excellent functional outcome; speech perception, nonverbal cognition, and speech performance were comparable to those of patients with DFNB1 deafness. The authors state that their results do not support the variable auditory outcome reported in the literature, which they suggest may be affected by social, environmental, and genetic background factors.

Gene therapy is mentioned as an emerging management option that may be viable in the future, but no gene therapy trial, no drug, and no pharmacological intervention for autosomal dominant nonsyndromic hearing loss 28 is described in these abstracts. The evidence base for any medical treatment remains absent. What is missing is any clinical trial of a drug or gene therapy specifically for this condition, any funding for such a trial, and any patient stratification strategy that would allow a targeted intervention to be tested.