The goal of this study is to characterize the natural course of IRDs that can potentially be modulated by future therapy. Second, this study aims to understand the relationship between various structural and functional biomarkers in potentially…
ID
Source
Brief title
Condition
- Retina, choroid and vitreous haemorrhages and vascular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Best corrected visual acuity; visual field sensitivity and area measured by
static perimetry; fundus autofluorescence intensity data, mean retinal
sensitivity as measured by fundus-guided microperimetry; ellipsoid zone area as
measured by SD-OCT; retinal function using full-field ERG amplitudes and timing
in response to rod- and cone-specific stimuli.
Secondary outcome
Quality of life and patient reported outcomes.
Background summary
Inherited retinal diseases (IRDs) often cause progressive retinal degeneration
due to mutations in one of many genes expressed in retinal cells. Up to now,
the vast majority of IRDs are not treatable and therefore patients generally
have not been examined at short intervals, and prospective studies on the
course of the diseases are lacking. Trials on therapies for IRDs are upcoming,
and to assess effectiveness of such therapies we need detailed knowledge on the
natural course of these diseases as well as identification of clinical
significant biomarkers to highlight disease progression. Visual acuity does not
seem to be the optimal biomarker to use in therapeutic trials. The use of
structural biomarkers (e.g. fundus autofluorescence imaging, optical coherence
tomography or a combination thereof) may show a much more gradual progression
that is indicative of functional vision loss at a later stage.
Study objective
The goal of this study is to characterize the natural course of IRDs that can
potentially be modulated by future therapy. Second, this study aims to
understand the relationship between various structural and functional
biomarkers in potentially therapy-eligible IRD cases which could ultimately
lead to the acceptance of structural biomarkers as clinical endpoints.
Study design
Longitudinal, prospective natural history study of IRD cases, with a 6-monthly
follow up for a total of 3 years.
Study burden and risks
Participants do not benefit from this study and risks are considered
negligible. Procedures are non-invasive and take about 5 hours extra time from
patient (and parent) per visit, twice a year. It is anticipated that, in the
future, patients with retinal dystrophies will benefit from newly developed
therapeutic strategies.
Philips van Leydenlaan 15
Nijmegen 6500 HB
NL
Philips van Leydenlaan 15
Nijmegen 6500 HB
NL
Listed location countries
Age
Inclusion criteria
Study Participant Inclusion Criteria
Participants must meet the following:
1. Clinical diagnosis of STGD and at least two pathogenic or likely pathogenic mutations in trans in the ABCA4 gene of which at least one therapy-eligible mutation
2. Age >= 16 years
3. Willing and able to complete the informed consent
4. Ability to return for all study visits over 36 months;Ocular Inclusion Criteria
At least one eye of participants must meet the following:
1. Baseline visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better)
2. Stable fixation and ability to perform perimetry reliably
3. Clear ocular media and adequate pupil dilation to permit good quality imaging
Exclusion criteria
Study Participant Exclusion Criteria
1. Mutations in genes that cause autosomal dominant or X-linked retinal dystrophy, or presence of biallelic mutations in autosomal recessive retinal dystrophy genes other than the gene studied in the patient cohort.;Ocular Exclusion Criteria
If both eyes have any of the following, the patient is not eligible:
1. Current vitreous hemorrhage
2. Current or any history of rhegmatogenous retinal detachment
3. Current or any history of (e.g., prior to cataract or refractive surgery) spherical
equivalent of the refractive error worse than -8 Diopters of myopia
4. History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
5. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
6. Expected to have cataract removal surgery during the study
7. History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
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
In other registers
| Register | ID |
|---|---|
| CCMO | NL65175.091.18 |
| OMON | NL-OMON20528 |