期刊
OPHTHALMIC RESEARCH
卷 60, 期 3, 页码 185-194出版社
KARGER
DOI: 10.1159/000491791
关键词
Stargardt disease type 4; PROM 1; Natural history study; Clinical trials; End points
资金
- Austrian Science Fund (FWF) [J 3383-B23]
- German National Academy of Sciences Leopoldina [LPDS 2015-14]
- Shulsky Foundation, New York, NY
- Foundation Fighting Blindness Clinical Research Institute (FFB CRI)
- National Centre of Competence in Research (NCCR) Molecular Systems Engineering (University of Basel and ETH Zurich)
- Swiss National Science Foundation
- USB
- Acucela Inc.
- NightstaRx Ltd.
- Ophthotech Corporation
- Spark Therapeutics England Ltd.
Background/Aims: To describe the design and baseline characteristics of patients enrolled in the multicenter, prospective natural history study of Stargardt disease type 4. Methods: Fifteen eligible patients aged 6 years and older at baseline, harboring disease-causing variants in the PROM 1 gene, and with specified ocular lesions were enrolled. They were examined at baseline using a standard protocol, with 6 monthly follow-up visits for a 2-year period including best-corrected ETDRS visual acuity, spectral-domain optical coherence tomography, fundus autofluorescence (FAF), mesopic and scotopic microperimetry (MP). Areas of definitely decreased FAF (DDAF) and questionably decreased FAF were outlined and quantified on FAF images. Results: Amongst the 15 patients (29 eyes) that were enrolled at 5 centers in the USA and Europe, 10 eyes (34.5%) had areas of DDAF with an average lesion area of 3.2 +/- 3.5 mm(2) (range 0.36-10.39 mm(2)) at baseline. The mean retinal sensitivity of the posterior pole derived from mesopic MP was 8.8 +/- 5.8 dB. Conclusions: Data on disease progression in PROM1-related retinopathy from this study will contribute to the characterization of the natural history of disease and the exploration of the utility of several modalities to track progression and therefore to potentially be used in future interventional clinical trials. (C) 2018 S. Karger AG, Basel
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