Genetics of Middle Ear Disease

University of Pittsburgh

Status: Completed

Conditions: Otitis Media

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00422136

R01DC005630 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

The goal of this study is to identify the genes that contribute to susceptibility to recurrent/persistent middle ear disease. Five hundred families with at least 2 children who have undergone tympanostomy tube insertion will be enrolled. A blood sample will be obtained from the children who had tubes and any available parent (at least 1), as well as any siblings without significant histories of middle ear disease.

Full description

Using the twin study approach, the investigators demonstrated that time with middle ear effusion (MEE), number of episodes of MEE and numbers of episodes of acute otitis media (AOM) have a strong genetic component. The point estimate of heritability of time with MEE was 0.73. While there is significant evidence that susceptibility to recurrent/persistent OM is largely genetically determined, the specific genes which confer susceptibility are unknown. The overall research strategy to identify genes underlying OM is to apply a three-stage study design that will allow the investigators to balance cost efficiency with statistical power. Five hundred evaluable pairs of siblings with a history of tympanostomy tube insertion (affected), their parent(s) and available non-affected full siblings will be recruited. A blood sample will be obtained from each subject for genotyping.

Enrollment: 2,121 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• families: 2 or more full sibs who had tympanostomy tubes inserted

Exclusion criteria

• major congenital malformations
• medical conditions with a predisposition for OM (e.g. cleft palate, Down syndrome, or other craniofacial malformations
• cared for in the Intensive Care Unit as neonate
• been on assisted ventilation
• known sensorineural hearing loss