Protocol Details
Natural History of Autosomal Dominant Hearing Loss
This study is currently recruiting participants.
Summary
Number |
20-DC-0047 |
Sponsoring Institute |
National Institute on Deafness and Other Communication Disorders (NIDCD) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3 Years
Max Age: 99 Years |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Keywords |
DFNA;
Genome Editing;
Natural History |
Recruitment Keyword(s) |
None |
Condition(s) |
Hearing Loss |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Institute on Deafness and Other Communication Disorders |
Background:
Hereditary hearing loss is one of the most common sensory disabilities affecting newborns. The main options for people with hereditary hearing loss are hearing aids and cochlear implants. Both options have their limitations and do not restore biological hearing. Researchers want to learn if gene editing might be a treatment option.
Objective:
To understand the genes that cause non-syndromic autosomal dominant hearing loss (DFNA) in people with DFNA as well as their family members.
Eligibility:
People age 3 99 who have DFNA, affected family members of enrolled participants with DFNA, and unaffected family members of enrolled participants
Design:
Participants will be screened with a medical and hearing history. Their medical records will be reviewed.
Participants will have hearing tests. They will wear headphones or earplugs. They will listen to tones, sounds, and words and may be asked to describe what they hear.
Participants will have balance tests. For these, they will wear googles as they watch moving lights or as cold or warm air is blown into their ears. They will sit in a spinning chair in a quiet, dark booth. From a reclined position, they will raise their head while listening to clicking sounds.
Participants will have blood drawn through a needle in the arm. Some blood will be used for gene testing.
Some participants will have 2 skin biopsies. The skin will be washed, and a numbing medicine will be injected. Two small pieces of skin will be removed.
Participants may have a physical exam.
Participation will last for up to 20 years. Participants may give medical updates once a year.
Eligibility
INCLUSION CRITERIA:
-Affected persons with autosomal dominant hereditary sensorineural hearing loss, preferably confirmed by prior genetic testing
-Affected family members of enrolled participants with known autosomal dominant hereditary hearing loss
-Unaffected Family Members (Healthy Volunteers) of enrolled participant
-Adults must be able to provide informed consent
-Minors must have a parent or guardian able to provide informed consent
-Subjects must be 3-99 years of age
EXCLUSION CRITERIA:
-Persons with sensorineural hearing loss (SNHL) and/or peripheral vestibular dysfunction associated with a non-genetic etiology such as infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as cisplatin, or aminoglycoside antibiotics will not be included in this protocol.
-Persons with sensorineural hearing loss known to be associated with surgical intervention (e.g. acoustic neuroma removal, failed stapedectomy).
Prospective study subjects who are cognitively impaired and lack consent capacity, will not be enrolled. The pre-screening eligibility checklist, which will be used and documented for registration under this protocol, is provided in a separate document.
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT04501081