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A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

This study has been completed.

Sponsored by: National Center for Research Resources (NCRR)
Information provided by: National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier: NCT00016471
  Purpose

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 Intervention
Usher Syndrome
Retinitis Pigmentosa
Congenital Hearing Impairment
Procedure: Audiogram
Procedure: Electroretinogram

Genetics Home Reference related topics:   Lenz microphthalmia syndrome    nonsyndromic deafness    oculofaciocardiodental syndrome    Peters plus syndrome    Usher syndrome    X-linked juvenile retinoschisis   

MedlinePlus related topics:   Hearing Disorders and Deafness    Usher Syndrome   

U.S. FDA Resources

Study Type:   Observational
Study Design:   Natural History, Defined Population
Official Title:   A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

Further study details as provided by National Center for Research Resources (NCRR):

Study Start Date:   March 2001
Estimated Study Completion Date:   February 2002

  Eligibility
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Criteria

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.

  Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00016471

Locations
United States, New York
Mount Sinai School of Medicine    
      New York, New York, United States, 10029

Sponsors and Collaborators
  More Information


Publications:

Study ID Numbers:   NCRR-M01RR00071-0374
First Received:   May 7, 2001
Last Updated:   June 23, 2005
ClinicalTrials.gov Identifier:   NCT00016471
Health Authority:   United States: Federal Government

Study placed in the following topic categories:
Sensation Disorders
Vision Disorders
Sensorineural hearing loss
Retinitis
Hearing Loss, Sensorineural
Ear Diseases
Usher Syndromes
Pigmentary retinopathy
Signs and Symptoms
Hearing Disorders
Deafness
Retinitis Pigmentosa
Cone rod dystrophy
Abnormalities, Multiple
Eye Diseases, Hereditary
Hearing Loss
Congenital Abnormalities
Retinal Diseases
Retinitis pigmentosa-deafness syndrome
Otorhinolaryngologic Diseases
Eye Diseases
Retinal Degeneration
Blindness
Genetic Diseases, Inborn
Neurologic Manifestations
Usher syndrome
Retinal degeneration

Additional relevant MeSH terms:
Pathologic Processes
Disease
Syndrome
Nervous System Diseases
Deaf-Blind Disorders

ClinicalTrials.gov processed this record on October 06, 2008




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