Stargardt disease, Stargardt 1, STGD1, Stargardt macular dystrophy, fundus flavimaculatus Stargardt disease
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Inclusion Criteria for Study Participation:Clinical diagnosis of STGD1 with two genetically confirmed pathogenic or likely pathogenic ABCA4 mutations.Willingness and ability to participate and sign the informed consent form.Availability for five study visits over 24 months.Age = 6 years.Both eyes must meet the following criteria:Visual Acuity: ETDRS letter score of at least 25 (approximate Snellen equivalent 20/320 or better, decimal acuity = 0.06).Ocular Condition: Clear ocular media and adequate pupil dilation for high-quality imaging.For participants with DDAF (30 individuals):DDAF must be visible on fundus autofluorescence at baseline.DDAF must not extend beyond the 55-degree border of the autofluorescence image.For participants without DDAF (5 individuals):No visible DDAF on fundus autofluorescence at baseline.
Exclusion criteria
Exclusion criteria: A patient is not eligible to participate if either eye has any of the following:Ocular ConditionsCurrent vitreous hemorrhage.Current or history of tractional or rhegmatogenous retinal detachment.Current or history of retinal vascular occlusion or proliferative diabetic retinopathy.Refractive Error & SurgeryHistory of spherical equivalent worse than -6 diopters of myopia (including pre-cataract or refractive surgery).Intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, LASIK) within the last 3 months.Expected to undergo cataract removal during the study.Other Ocular FactorsCurrent or past ocular disease or active treatment that may interfere with visual function assessment (per investigator’s judgment).Clinical Trial ParticipationCurrently enrolled in an STGD1 treatment trial.Previous participation in an IRD trial with irreversible effects (e.g., gene therapy).Previous participation in an STGD1 trial with reversible effects, where the required wash-out period has not been completed.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Best corrected visual acuity, atrophic lesion size measured by fundus autofluorescence, macular sensitivity as measured by fundus-guided microperimetry, ellipsoid zone loss as measured by SD-OCT, biomarkers derived from adaptive optics imaging, VFQ-25 and MRDQ questionnaires. | — |
Secondary
| Measure | Time frame |
|---|---|
| Historical patient information (ocular history, medical history)Not yet defined biomarkers derived from Adaptive Optics imaging | — |
Countries
Netherlands
Contacts
Public ContactY. Leeuwen
Radboud Universitair Medisch Centrum
Outcome results
None listed