Viewing Study NCT00016471



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Last Modification Date: 2024-10-26 @ 9:06 AM
Study NCT ID: NCT00016471
Status: COMPLETED
Last Update Posted: 2005-06-24
First Post: 2001-05-07

Brief Title: A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
Sponsor: National Center for Research Resources NCRR
Organization: National Center for Research Resources NCRR

Study Overview

Official Title: A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
Status: COMPLETED
Status Verified Date: 2003-11
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
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 participants 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
Detailed Description: None

Study Oversight

Has Oversight DMC:
Is a FDA Regulated Drug?:
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Is a PPSD?:
Is a US Export?:
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