A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

Brief Title

A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

Official Title

A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

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.
    



Study Type

Observational




Condition

Usher Syndrome

Intervention

Audiogram


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Procedure


Start Date

March 2001

Completion Date

February 2002


Eligibility 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.
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00016471

Organization ID

NCRR-M01RR00071-0374



Study Sponsor

National Center for Research Resources (NCRR)


Study Sponsor

, , 


Verification Date

November 2003