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Approved Research

The Genetics of Cholesteatoma

Principal Investigator: Professor Carl Philpott
Approved Research ID: 61632
Approval date: July 13th 2020

Lay summary

*             To analyse a nationwide group of patients with a diagnosis of cholesteatoma to define aspects of family, social and medical history characteristics for this disease.

*             To use the study findings to inform future studies of cholesteatoma in terms of cause and likely outcomes.

Scientific rationale:

Cholesteatoma is disease of the middle part of the ear (area behind the eardrum) in which skin cells collect to form a mass destructive of the delicate structures including the little bones of the hearing mechanism. It is a long-term condition that affects both children and adults. The only treatment that works to clear it from the middle ear is surgery under the microscope. Cholesteatoma occurs in about 9 in 100,000 Europeans per year. It occurs most often in the age group of 5 to 15 years, in males more than females and in white more than non-white populations. Whilst it is a rare disorder, it is an important preventable cause of hearing loss.

Our team searched for existing medical evidence that cholesteatoma may be due inherited patterns in our genes. We found a range of studies that reported families where higher numbers of the disease were found. However, it did not suggest a definite pattern of inheritance but did raise the possibility that there may be rare genetic trends running in some families that make the disease more likely. Our team also carried out an online survey with 857 people taking part.  Eighty-nine (10%) reported that someone in their family also had cholesteatoma. This 10% were twice as likely to have the disease in both ears compared to those without any affected relatives.

Design and methods:

Data analysis will be led by a research team including data managers, statisticians and experts in medical genetics and epidemiology at the University of East Anglia. By collecting information on age and sex along with details of ear disease/surgery and relevant medical conditions including cleft lip/palate and sinus disease, we would look to see how common the condition is and then ask for extra information on family history from those identified as having cholesteatoma. We may then be able to look at the genetic data for this select group of individuals. We will allow 12 months for this project.

Public health impact: Identifying family patterns in this ear disease that affects hearing may lead to the potential for future screening to pick up cases before any hearing loss occurs or becomes irreversible.