Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

Launched by JESSA HOSPITAL · Oct 22, 2018

Keywords

ClinConnect Summary

This clinical trial is studying a condition called DFNA9, which is a type of hereditary hearing loss that can also affect balance. The researchers want to learn more about how different factors, like age and specific genetic mutations, relate to hearing and balance problems in people who either show symptoms or are at risk of developing them. The trial will use a range of new tests to check both hearing and balance, building on what we knew from older studies.

To participate in this study, you need to be at least 18 years old and a family member of someone who has the specific genetic mutation known as P51S COCH. Unfortunately, if you have other ear diseases, have had certain surgeries, or are not willing to join, you won’t be eligible. Participants can expect to undergo various tests that will help researchers gather important information about hearing and balance, contributing to a better understanding of this condition. Your involvement could help improve care for others with DFNA9 in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • subject must be 18 year of older
• • subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation
• Exclusion Criteria:
• • subject is younger than 18 years
• • subject is not a family member of the pedigree's proband(s) carrying a P51S
• • subject cannot undergo investigations (medical and/or mental reasons)
• • subject is not willing to be enrolled into the study
• • subject suffers other concomitant middle or inner ear disease
• • subject has undergone middle ear or inner ear surgery
• • subject suffers other concomitant vestibular disease than DFNA9
• • subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example)