Natural History and Genetic Studies of Usher Syndrome
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|ClinicalTrials.gov Identifier: NCT00106743|
Recruitment Status : Completed
First Posted : March 30, 2005
Last Update Posted : May 20, 2019
|First Submitted Date||March 29, 2005|
|First Posted Date||March 30, 2005|
|Last Update Posted Date||May 20, 2019|
|Study Start Date||March 21, 2005|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
||The primary outcomes of interest are the probands genotype and phenotype. [ Time Frame: 1 year ]|
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT00106743 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Pre-specified Outcome Measures||Not Provided|
|Original Other Pre-specified Outcome Measures||Not Provided|
|Brief Title||Natural History and Genetic Studies of Usher Syndrome|
|Official Title||Natural History and Genetic Studies of Usher Syndrome|
This study will explore clinical and genetic aspects of Usher syndrome, an inherited disease causing deafness or impaired hearing, visual problems, and, in some cases, unsteadiness or balance problems. Patients with type 1 Usher syndrome usually are deaf from birth and have speech and balance problems. Patients with type 2 disease generally are hearing impaired but have no balance problems. Patients with type 3 disease have progressive hearing loss and balance problems. All patients develop retinitis pigmentosa, an eye disease that causes poor night vision and eventually, blindness.
Patients of any age with Usher syndrome may be eligible for this study. Patients who have had eye and hearing evaluations are asked to send their medical records to the research team at the National Eye Institute (NEI) for review. They are also asked to have a blood sample drawn by a medical professional and sent to NEI for genetic analysis. Finally, they are interviewed about their family histories, particularly about other relative with eye disease. Patients who have not been evaluated previously have the following tests and procedures at NIH:
Videonystagmography: This test records eye movements with little cameras. First the patient follows the movements of some small lights. Next, while wearing goggles, the patient lies on an exam table and turns to the right and left. Lastly, a soft stream of air is blown into the patient's ears four times, once in each ear with cool air and once in each ear with warm air.
Rotary chair test: With electrodes placed on the forehead, the patient sits in a rotary chair in a dark room. Several red lights appear on the wall of the room and the patient follows the lights as they move back and forth. Then the chair turns at several speeds, all slower than a merry-go-round.
Vestibular evoked potential: Electrodes are placed behind the patient's ear and at the base of the neck. Seated in a reclining chair and wearing earphones, the patient hears a brief series of loud clicking sounds. When the sounds are on, the patient is asked to lift his or her head up a few inches from the chair. The electrodes record information from the muscles in the neck as the sounds enter the ear.
Background and objectives:
The Usher syndromes are a group of clinically variable and genetically heterogeneous autosomal recessive syndromes. On the basis of clinical findings, at least three types exist. Patients with Usher type I are born deaf, have vestibular problems, and are thought to perceive night blindness in early childhood. Patients with Usher type II are born with a hearing deficit but are able to develop intelligible speech, do not have balance problems; night vision problems, and visual field changes are noted later. Patients with Usher type III are born with relatively good hearing that deteriorates over a decade or more; they can have progressive balance problems and they report night blindness in childhood or teens. Seven genes have been mapped so far for Usher type I while five of these genes have been identified. For Usher type II, four genes have been mapped and three of these have been identified while there is one cloned gene for Usher type III. Quite a lot of information is still unknown regarding the genetic nature of this syndrome. The picture of the three clinical types of Usher syndrome has also not been well studied up to this point and cross sectional studies seems to be the only source of the information available so far, regarding the natural history of the disease. The aim of this protocol is to better study the natural history of the disease and also make specific genotype-phenotype correlations.
A total of 200 participants, including patients affected with all three clinical types of Usher syndrome and up to 200 unaffected relatives will be enrolled to the protocol. Unaffected family members, primarily parents and siblings will be enrolled to provide a blood sample when considered helpful for linkage analysis. Family members will be considered unaffected if they have had a previous normal examination and they don t have any symptoms of decreased night or peripheral vision.
Participants will undergo ophthalmologic, audiologic and vestibular evaluation in order to be clinically characterized. Blood will be obtained by all participating subjects for the molecular studies. Patients who cannot come to NIH or a collaborating Institution for participation will be asked to provide a blood sample for genotyping and a copy of their ophthalmologic, audiology and vestibular records, to classify phenotype. Each off-site participant will be consented over the phone by an NEI investigator. All participants will be requested to fill out a questionnaire.
Affected participants will be phenotypically categorized in one of the three clinical types based on audiology and vestibular findings
|Study Design||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Study Completion Date||April 30, 2019|
|Primary Completion Date||Not Provided|
Eligible participants must:
Patients will be ineligible if they:
Both affected and unaffected individuals will be ineligible if they:
|Ages||2 Years and older (Child, Adult, Older Adult)|
|Accepts Healthy Volunteers||No|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||United States|
|Removed Location Countries||Israel|
|Other Study ID Numbers||050096
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )|
|Study Sponsor||National Eye Institute (NEI)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||April 30, 2019|