Inherited retinal disease Stargardt disease
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Study Participant Inclusion Criteria In order to be eligible to participate in this study, a subject must meet all of the following criteria: 1. Clinical diagnosis of STGD1 and at least one pathogenic or likely pathogenic mutation and one of the mutations should be either c.768G>T, c.4539+2001G>A or c.5196+1137G>A 2. Willingness and ability to participate in this study and to complete the informed consent 3. Willingness and ability to return for the five study visits over 24 months 4. Age >= 6 years Ocular Inclusion criteria Both eyes of the participant must meet the following criteria: 1. Baseline visual acuity ETDRS letter score of 35 or more (approximate Snellen equivalent 20/200 or better, decimal acuity >=0.1) 2. Stable fixation and ability to perform perimetry reliable 3. Clear ocular media and adequate pupil dilation to permit good quality imaging
Exclusion criteria
Exclusion criteria: If either of one eyes has any of the following, the patient is not eligible to participate in this study: 1. Current vitreous haemorrhage 2. Current or any history of tractional or 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 of proliferative diabetic retinopathy 6. Expected to have cataract removal during the study 7. History of current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function 8. Current participation in a clinical trial for treatment of STGD1 9. History of participation in a clinical trial for treatment of IRD with irreversible effect, like gene-therapy 10. History of participation in a clinical trial for treatment of STGD1 with reversible effect, for which the wash-out time has not yet passed
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Best corrected visual acuity, atrophic lesion size measured by fundus autofluorescence, mean retinal sensitivity as measured by fundus-guided microperimetry, area of ellipsoid zone loss 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
| Measure | Time frame |
|---|---|
| patient reported outcomes (questionnaire) | — |
Countries
Netherlands
Outcome results
None listed