Join an NIH Clinical Study
Study title: Natural History and Genetic Studies of Usher Syndrome
How can I participate in the study?
Patients with all clinical types of Usher syndrome (types 1, 2, and 3) over the age of 2 years are eligible to participate.
Usher patients who want to participate will be asked to provide a copy of their recent medical records, if available. The records will be reviewed by one of the study’s investigators. Participating volunteers will have one of three options:
- If previous audiologic and ophthalmologic evaluations are complete, an examination at NIH is not necessary. After signing the informed consent, you will be provided with a questionnaire and asked to provide a blood sample. Your clinical data will be entered into our Usher database, created and managed by the primary investigator and her collaborators. Only patients with complete ophthalmic and auditory evaluations will have this option. All data are kept strictly confidential.
- If you have not previously had complete ophthalmologic and audiologic evaluations, you can come to NIH (in Bethesda, MD) for a complete ophthalmologic and auditory evaluation after signing an informed consent form. You will also provide a blood sample. Evaluation at NIH will be free, but participants will not be reimbursed for travel or accommodations.
- If your previous evaluations are nonexistent or incomplete AND you are unable to travel to NIH, the study's researchers can advise you as to which tests need to be performed by outside ophthalmologists and audiologists. Copies of these records must then be forwarded to NIH. After signing the off-site informed consent form, you will answer a questionnaire and provide a blood sample. You will be financially responsible for your visit(s) to outside clinicians. Off-site patients will be assigned a clinical type (type 1, 2, or 3) based on the information provided by the outside clinicians' evaluations.
All participants who visit NIH or participate off-site will be required to sign an informed consent and will be asked to answer a questionnaire providing information about their family and medical history.
In addition to individuals with Usher syndrome, their family members without Usher syndrome—primarily parents and siblings—will be asked to provide a blood sample when considered helpful for linkage analysis. We will assume that family members do not have Usher syndrome if they have had a previous normal ophthalmologic examination and no symptoms of decreased night or peripheral vision.