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A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

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ClinicalTrials.gov Identifier: NCT00016471
Recruitment Status : Completed
First Posted : May 9, 2001
Last Update Posted : June 24, 2005
Information provided by:
National Center for Research Resources (NCRR)

Brief Summary:

Hearing loss and loss of vision can be very harmful to the well-being and life of people who suffer from them. Usher syndrome is the name of a disease where people have both hearing loss and visual loss. In fact more than half of people who are deaf and blind have Usher syndrome. In this study we are trying to find the causes of all types of Usher syndrome and to learn more about how the eyes and ears work. Usher syndrome is caused by changes in our genes that lead to mistakes in the functioning of our eyes and ears.

We may conduct hearing tests called audiograms to test hearing and a vision test called an electroretinogram (ERG) to test how well the retina (the part of your eye that senses light) is working on participants in the study. From these tests we can tell what kind of Usher syndrome a participant may have.

We will then get DNA from participants by drawing blood. The DNA will be studied, along with DNA from members of the participant's family and other families, to try to find the gene that is causing Usher syndrome in the participant.

Once the gene is found we will be able to study it to learn more about how the eyes and ears work.

If a subject has already been diagnosed we may just need copies of their medical records and blood can be drawn locally.

In order to increase the power of the study and the likelihood of detecting relevant genes participants will be taken from the Ashkenazi Jewish population group only. This will make it much easier to find the genes.

Condition or disease Intervention/treatment
Usher Syndrome Retinitis Pigmentosa Congenital Hearing Impairment Procedure: Audiogram Procedure: Electroretinogram

Study Type : Observational
Observational Model: Defined Population
Observational Model: Natural History
Official Title: A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
Study Start Date : March 2001
Estimated Study Completion Date : February 2002

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion criteria:

Any Ashkenazi Jewish individual with combined hearing and visual loss that is or may be any type of Usher syndrome, or a family member of said individual.

Exclusion criteria:

Any individual who is not an Ashkenazi Jew or does not have combined hearing and visual loss or whose disease has been previously determined not to be Usher syndrome.

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): NCT00016471

United States, New York
Mount Sinai School of Medicine
New York, New York, United States, 10029
Sponsors and Collaborators
National Center for Research Resources (NCRR)

ClinicalTrials.gov Identifier: NCT00016471     History of Changes
Other Study ID Numbers: NCRR-M01RR00071-0374
First Posted: May 9, 2001    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: November 2003

Additional relevant MeSH terms:
Usher Syndromes
Retinitis Pigmentosa
Cone-Rod Dystrophies
Hearing Loss
Pathologic Processes
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Deaf-Blind Disorders
Hearing Loss, Sensorineural
Vision Disorders
Abnormalities, Multiple
Congenital Abnormalities