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Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan Protocol

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ClinicalTrials.gov Identifier: NCT00341874
Recruitment Status : Recruiting
First Posted : June 21, 2006
Last Update Posted : June 20, 2018
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) )

Brief Summary:

The incidence of hearing impairment in India and Pakistan is higher than in the United States. This can be attributed to several factors, including infection and high rate of inbreeding which may result in homozygosity for a rare recessive mutation. The average family size is larger in India and Pakistan when compared to the United States. In addition, there are more than 1 billion people in India while the population size of Pakistan is approximately 148 million. The ability to detect linkage is greatly enhanced in an extended inbred family. It is estimated that as many as 45% - 60% of marriages in Pakistan are between close relatives (the vast majority of marriages are to first cousins). While the percentage of consanguineous marriages are not as high in India as compared to Pakistan, the population size of India is much larger.

Hearing impairment is the result of abnormal ear development, abnormal ear function or both and yet little is known about the molecular mechanisms involved in the development and homeostasis of the inner ear. Although the genes for several recessive deafness loci have been identified, there are still many families segregating deafness that cannot be ascribed to one of the currently known genes. The purpose of this study is to continue to identify genes that cause nonsyndromic hereditary hearing impairment by enrolling families segregating deafness.


Condition or disease
Hearing Disorder

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 24000 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: Non-Syndromic Hereditary Hearing Impairment - Gene Mapping: India/Pakistan Protocol
Study Start Date : September 8, 1992

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. New genes and loci associated with hearing loss will be identified and new strategies to prevent and preserve hearing will be developed [ Time Frame: 07/01/2020 ]


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:
  • Affected and unaffected members of families segregating deafness caused by genetic etiology.
  • Adults must be able to provide informed consent.
  • Adults must be able to provide informed consent for children who are at least two years of age
  • All communities, ethnicities, and races as found in Pakistan.

EXCLUSION CRITERIA:

  • Persons with non-genetic forms of hearing loss likely due to acquired causes such as an infection, head or noise trauma, or exposure to an ototoxic drug will not be included in this protocol
  • Syndromic forms of inherited deafness are excluded if the gene for the disorder is known and there is no reason to believe the disorder is genetically heterogeneous.
  • Subjects cannot provide informed consent or have a parent/guardian that cannot provide consent.
  • Children under the age of two years will not be included in this study because an objective audiological examination such as an ABR analysis may require sedation, which is presently not feasible in Pakistan.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00341874


Contacts
Contact: Sheikh M. Riazuddin, M.D. Not Listed riaz@lhr.comsats.net.pk
Contact: Thomas B Friedman, Ph.D. (301) 496-7882 friedman@nidcd.nih.gov

Locations
Pakistan
University of Punjab Recruiting
Lahore, Pakistan
Sponsors and Collaborators
National Institute on Deafness and Other Communication Disorders (NIDCD)
Investigators
Principal Investigator: Thomas B Friedman, Ph.D. National Institute on Deafness and Other Communication Disorders (NIDCD)

Publications:
Responsible Party: National Institute on Deafness and Other Communication Disorders (NIDCD)
ClinicalTrials.gov Identifier: NCT00341874     History of Changes
Other Study ID Numbers: 999993016
OH93-DC-016
First Posted: June 21, 2006    Key Record Dates
Last Update Posted: June 20, 2018
Last Verified: April 9, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) ):
DNA Mutations
Genetic Variation
GENETIC LINKAGE
Gene Expression Patterns
Hereditary Hearing Disorder

Additional relevant MeSH terms:
Hearing Loss
Deafness
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms