A Genetic Analysis of Usher Syndrome in Ashkenazi Jews

This study has been completed.
Sponsor:
Information provided by:
National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:
NCT00016471
First received: May 7, 2001
Last updated: June 23, 2005
Last verified: November 2003
  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

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

Resource links provided by NLM:


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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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

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

ClinicalTrials.gov processed this record on July 23, 2014