No registrations found.
ID
Source
Brief title
Health condition
Inherited retinal diseases, Stargardt disease, retinal dystrophy
Erfelijke netvlies aandoeningen, de ziekte van Stargardt, netvliesdystrofie
Sponsors and support
Intervention
Outcome measures
Primary outcome
Best corrected visual acuity, quantitative fundus autofluorescence intensity data, mean retinal sensitivity as measured by fundus-guided microperimetry, ellipsoid zone area as measured by SD-OCT, visual field sensitivity measured by static perimetry, macular and retinal function using multifocal and full-field ERG amplitudes and implicit time, rod and cone full-field stimulus thresholds.
Secondary outcome
Quality of life and patient reported outcomes
Background summary
The vast majority of inherited retinal diseases are not yet treatable and therefore patients generally have not been examined at short intervals. However, 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 biomarkers of disease progression. 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 objective
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 design
Baseline, 6mnths, 12mnths, 18mnths, 24mnths 30mnths, 36mnths.
Intervention
Not applicable
Nijmegen
The Netherlands
+31 (0)24 3613212
Nijmegen
The Netherlands
+31 (0)24 3613212
Inclusion criteria
Cohort-specific inclusion criteria:
- Clinical diagnosis of STGD and at least two pathogenic or likely pathogenic, therapy-eligible mutations in trans in the ABCA4 gene
Participants must meet the following:
- Age =/> 12 years
- Willing and able to complete the informed consent
- Ability to return for all study visits over 36 months
Both eyes of participants must meet the following:
- Baseline visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better)
- Stable fixation and ability to perform perimetry reliably
- Clear ocular media and adequate pupil dilation to permit good quality imaging
Exclusion criteria
- 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
If either eye has any of the following, the patient is not eligible:
- Current vitreous hemorrhage
- Current or any history of rhegmatogenous retinal detachment
- 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
- History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
- Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
- Expected to have cataract removal surgery during the study
- History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
Design
Recruitment
Followed up by the following (possibly more current) registration
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL6948 |
| NTR-old | NTR7204 |
| CCMO | NL65175.091.18 |
| OMON | NL-OMON48655 |