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Massive gene hunt for deafness in pakistan could unlock new clues

NCT ID NCT00341874

Knowledge-focused Sponsor: National Institute on Deafness and Other Communication Disorders (NIDCD) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Sep 16, 2026 · Updated 13 times

Summary

This study aims to find the genes that cause inherited hearing loss by analyzing DNA from 24,000 people in large Pakistani families. Researchers will compare affected and unaffected family members to identify new deafness genes. The goal is to improve genetic testing and counseling for at-risk couples.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could lead to better genetic tests for early diagnosis and counseling for families at risk of hereditary deafness.
What could go wrong
This is an observational genetic study, not a treatment trial. It may not directly benefit participants and could take years to yield practical applications.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

18,009 people

The number who actually took part.

Started

Mar 2000

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

This study will ascertain subjects from consanguineous Pakistani families segregating hearing loss consisting of both nonsyndromic and syndromic forms of deafness of genetic etiology. Since a majority of Pakistani marriages are between first cousins, this tends to bring together the same recessive mutations for hearing loss with multiple affected individuals within single family lines, which is an advantage for this genetic study. A few years ago we stopped ascertaining families in India. We continue to ascertain both affected and unaffected Pakistani family members from age 2 years and up. Adults provide informed consent both for themselves and their children who agree to participate in this study. We will ascertain both genders and all Pakistani races and ethnicities.

Ages

2 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* 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.

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Conditions

The condition(s) this trial relates to.

blindness (disorder) hearing disorder nonsyndromic genetic hearing loss Usher syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Hearing disorder

Contacts and locations

Locations

  • University of Punjab

    Lahore, Pakistan

More trials for these conditions

Other studies related to the condition(s) this trial covers.