1. To report the natural history of retinal degeneration in patients with biallelic mutations in the EYS gene.2. To identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal…
ID
Source
Brief title
Condition
- Eye disorders congenital
- Congenital eye disorders (excl glaucoma)
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
not applicable
Background summary
Biallelic mutations in EYS represent a common cause of retinitis pigmentosa.
There are at least four
isoforms of the EYS gene that are expressed in the human retina. The exact role
of EYS is unclear but it has been speculated to be involved in maintenance of
the rods and cones. There has not been a strong establishment of correlation
between the mutation in the EYS gene and the progression of the disease. The
average age of onset has been reported to be approximately twenty years with
loss
of visual acuity starting around age thirty. Retrospective studies have shown
the rate of vision loss in EYS to be more severe than that of mutations caused
by USH2A. There are few data available on retinitis pigmentosa patients with
mutations in the EYS gene. The Pro-EYS study will conduct a multicenter natural
history study in patients with biallelic mutations in EYS with the purpose of
better understanding disease progression as well as obtaining preliminary data
for potential therapeutic trials in the future.
Study objective
1. To report the natural history of retinal degeneration in patients with
biallelic mutations in the EYS gene.
2. To identify sensitive structural and functional outcome measures to use for
future multicenter clinical trials in EYS-related retinal degeneration.
3. To identify well-defined subpopulations for future clinical trials of
investigative treatments for EYS-related retinal degeneration
Study design
This study is designed as a multicenter longitudinal, prospective natural
history study. Patients will be defined to 3 cohorts based on their visual
acuity and kinetic visual field.
Study burden and risks
We anticipate that study enrollment will be representative of the population of
patients with biallelic mutations in the EYS gene.
Participants do not benefit, risks are considered negligible, procedures are
non-invasive and take 3 to 6 hours extra time from patient per visit, one visit
per year. lt is anticipated that, in the future, patients with EYS-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
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 >=18 years
4. Have retinal degeneration caused by mutations in the EYS gene, as defined by
a clinically certified lab
Exclusion criteria
1. Have other mutations in your DNA that could cause retinal degeneration.
2. Be planning to enter a study testing treatments for retinal degeneration
during the time of this study.
3. Have a history of treatment that could have affected the retina.
4. Have had certain eye surgeries that may affect the tests for this study.
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 |
|---|---|
| ClinicalTrials.gov | NCT04127006 |
| CCMO | NL74105.091.20 |