To report the natural history of retinal degeneration in patients with biallelic mutations in the USH2A gene; to identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in USH2A-related retinal…
ID
Source
Brief title
Condition
- Inner ear and VIIIth cranial nerve disorders
- Retina, choroid and vitreous haemorrhages and vascular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Visual field sensitivity measured by static perimetry, best corrected visual
acuity, mean retinal sensitivity as measured by fundus-guided microperimetry,
ellipsoid zone area as measured by spectral-domain optical coherence
tomography, retinal function using full-field electroretinography amplitudes
and timing in response to rod- and cone-specific stimuli
Secondary outcome
Auditory function, patient reported outcomes
Background summary
Usher syndrome represents a leading cause of autosomal recessive
deaf-blindness. Usher syndrome is divided into 3 types, based on the severity
and onset of hearing loss. The most common gene mutated in patients with Usher
syndrome type 2 is USH2A. USH2A mutations may also cause retinitis pigmentosa
(RP) without congenital hearing loss. As new treatments for USH2A-related
retinal degeneration are developed, a clear understanding of the natural
history of disease progression of USH2A-related retinal degeneration is
necessary. Limited natural history data are available from patients with Usher
syndrome type 2. Natural history studies of patients with USH2A mutations are
needed to accelerate the development of outcome measures for clinical trials.
Sensitive, objective outcome measures of retinal degeneration will greatly
facilitate development of treatments for Usher syndrome patients. Together
these approaches are expected to have an impact on understanding USH2A-related
retinal degeneration, developing experimental treatment protocols, and
assessing their effectiveness.
Study objective
To report the natural history of retinal degeneration in patients with
biallelic mutations in the USH2A gene; to identify sensitive structural and
functional outcome measures to use for future multicenter clinical trials in
USH2A-related retinal degeneration; to identify well-defined subpopulations for
future clinical trials of investigative treatments for USH2A-related retinal
degeneration
Study design
This study is designed as a multicenter, longitudinal, prospective natural
history study. A second cohort of eyes with more severe vision impairment will
enroll into a cross-sectional baseline study only.
Study burden and risks
We anticipate that study enrollment will be representative of the population of
patients with biallelic mutations in the USH2A gene, including those under the
age of 18. Biallelic mutations in the USH2A gene can impact individuals in the
first or second decade of life, therefore it is imperative that children are
included in this natural history study in order to adequately characterize the
natural history of retinal degeneration in patients with USH2A mutations.
Participants do not benefit, risks are considered negligible, procedures are
non-invasive and take 3 to 6 hours extra time from patient (and parent) per
visit, one visit per year. It is anticipated that, in the future, patients with
USH2A-related retinal degeneration will benefit from newly developed
therapeutic strategies.
Amberly Drive, suite 350 15310
Tampa FL33647
US
Amberly Drive, suite 350 15310
Tampa FL33647
US
Listed location countries
Age
Inclusion criteria
2.2.1 Study Participant Inclusion Criteria
1. Willing and able to complete the informed consent process
2. Ability to return for all study visits over 48 months if in the natural history study
3. Age * 8 years
4. At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report
Exclusion criteria
2.2.2 Study Participant Exclusion Criteria
1. Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A
2. Expected to enter experimental treatment trial at any time during this study
3. History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine)
Design
Recruitment
Medical products/devices used
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL62954.091.17 |