Natural History Study in Subjects With Usher Syndrome
A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B)
The objective of the study is to evaluate the natural progression of disease over time in
This natural history study (NHS) is being conducted to understand the progression of disease
in USH1B patients as measured by a number of vision-related assessments. Disease progression
will be evaluated as change over time in these measures, and associations between the
endpoints will be examined.
Usher Syndrome, Type 1B
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
June 1, 2018
December 30, 2021
Primary Completion Date
December 30, 2020
1. Must be willing to adhere to protocol for long-term follow-up as evidenced by written
informed consent or parental permission and subject assent.
2. Subjects diagnosed with USH1.
3. Molecular diagnosis of USH1B due to MYO7A mutations (homozygotes or compound
4. Age eight years old or older at the time of baseline.
5. Visual acuity ≥ 20/640 in at least one eye
1. Unable or unwilling to meet requirements of the study.
2. Unable to communicate with suitable verbal/auditory and/or tactile sign language (in
the opinion of the investigator)
3. Participation in a clinical study with an investigational drug in the past six months.
4. Pre-existing eye conditions that would interfere with the interpretation of study
endpoints (for example, glaucoma, corneal or significant lenticular opacities, cystoid
macular oedema, macular hole).
5. Complicating systemic diseases in which the disease itself, or the treatment for the
disease, can alter ocular function. Examples are malignancies whose treatment could
affect central nervous system function (for example, radiation treatment of the orbit;
leukemia with CNS/optic nerve involvement). Also excluded would be subjects with
immuno- compromising diseases, as there could be susceptibility to opportunistic
infection [such as cytomegalovirus (CMV) retinitis].
6. Subjects with diabetes or sickle cell disease would be excluded if they had any
manifestation of advanced retinopathy (e.g. macular edema or proliferative changes).
7. Prior ocular surgery within three months.
8. Any other condition that would not allow the potential subject to complete follow-up
examinations during the course of the study and, in the opinion of the investigator,
makes the potential subject unsuitable for the study.