Rupert W Strauss1, Alex Ho2, Beatriz Muñoz3, Artur V Cideciyan4, José-Alain Sahel5, Janet S Sunness6, David G Birch7, Paul S Bernstein8, Michel Michaelides9, Elias I Traboulsi10, Eberhart Zrenner11, SriniVas Sadda2, Ann-Margret Ervin12, Sheila West3, Hendrik P N Scholl13. 1. Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland; Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, University College London, London, United Kingdom; Department of Ophthalmology, Medical University Graz, Graz, and Department of Ophthalmology, Johannes Kepler University Linz, Linz, Austria. 2. Doheny Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, California. 3. Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland. 4. Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 5. Sorbonne Universités, University Pierre et Marie Curie (UPMC) Université de Paris 06, Institut national de la santé et de la recherche médicale (INSERM), Centre national de la recherche scientifique (CNRS), Institut de la Vision, Centre Hospitalier National d'Ophtalmologie (CHNO) des Quinze-Vingts, Paris, France. 6. Hoover Low Vision Rehabilitation Services, Greater Baltimore Medical Center, Baltimore, Maryland. 7. Retina Foundation of the Southwest, Dallas, Texas. 8. Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah. 9. Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, University College London, London, United Kingdom. 10. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio. 11. Center for Ophthalmology, Eberhard-Karls University Hospital, Tuebingen, Germany. 12. Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland; Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland. 13. Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland. Electronic address: hscholl1@jhmi.edu.
Abstract
PURPOSE: To describe the design and baseline characteristics of patients enrolled into 2 natural history studies of Stargardt disease (STGD1). DESIGN: Multicenter retrospective and prospective cohort studies. PARTICIPANTS: Three hundred sixty-five unique patients aged 6 years and older at baseline harboring disease-causing variants in the ABCA4 gene and with specified ocular lesions were enrolled from 9 centers in the United States and Europe. METHODS: In the retrospective study, patients contributed medical record data from at least 2 and up to 4 visits for at least 1 examination modality: fundus autofluorescence (FAF), spectral-domain (SD) optical coherence tomography (SD OCT), and/or microperimetry (MP). The total observational period was at least 2 years and up to 5 years between single visits. Demographic and visual acuity (VA) data also were obtained. In the prospective study, eligible patients were examined at baseline using a standard protocol, with 6-month follow-up visits planned for a 2-year period for serial Early Treatment Diabetic Retinopathy Study (ETDRS) best-corrected VA, SD OCT, FAF, and MP. MAIN OUTCOME MEASURES: Design and rationale of a multicenter study to determine the progression of STGD1 in 2 large retrospective and prospective international cohorts. Detailed baseline characteristics of both cohorts are presented, including demographics, and structural and functional retinal metrics. RESULTS: Into the retrospective study, 251 patients (458 eyes) were enrolled; mean follow-up ± standard deviation was 3.9±1.6 years. At baseline, 36% had no or mild VA loss, and 47% of the study eyes had areas of definitely decreased autofluorescence (DDAF) with an average lesion area of 2.5±2.9 mm(2) (range, 0.02-16.03 mm(2)). Two hundred fifty-nine patients (489 eyes) were enrolled in the prospective study. At baseline, 20% had no or mild VA loss, and 64% had areas of DDAF with an average lesion area of 4.0±4.4 mm(2) (range, 0.03-24.24 mm(2)). The mean retinal sensitivity with MP was 10.8±5.0 dB. CONCLUSIONS: The ProgStar cohorts have baseline characteristics that encompass a wide range of disease severity and are expected to provide valuable data on progression based on serial quantitative measurements derived from multiple methods, which will be critical to the design of planned clinical trials.
PURPOSE: To describe the design and baseline characteristics of patients enrolled into 2 natural history studies of Stargardt disease (STGD1). DESIGN: Multicenter retrospective and prospective cohort studies. PARTICIPANTS: Three hundred sixty-five unique patients aged 6 years and older at baseline harboring disease-causing variants in the ABCA4 gene and with specified ocular lesions were enrolled from 9 centers in the United States and Europe. METHODS: In the retrospective study, patients contributed medical record data from at least 2 and up to 4 visits for at least 1 examination modality: fundus autofluorescence (FAF), spectral-domain (SD) optical coherence tomography (SD OCT), and/or microperimetry (MP). The total observational period was at least 2 years and up to 5 years between single visits. Demographic and visual acuity (VA) data also were obtained. In the prospective study, eligible patients were examined at baseline using a standard protocol, with 6-month follow-up visits planned for a 2-year period for serial Early Treatment Diabetic Retinopathy Study (ETDRS) best-corrected VA, SD OCT, FAF, and MP. MAIN OUTCOME MEASURES: Design and rationale of a multicenter study to determine the progression of STGD1 in 2 large retrospective and prospective international cohorts. Detailed baseline characteristics of both cohorts are presented, including demographics, and structural and functional retinal metrics. RESULTS: Into the retrospective study, 251 patients (458 eyes) were enrolled; mean follow-up ± standard deviation was 3.9±1.6 years. At baseline, 36% had no or mild VA loss, and 47% of the study eyes had areas of definitely decreased autofluorescence (DDAF) with an average lesion area of 2.5±2.9 mm(2) (range, 0.02-16.03 mm(2)). Two hundred fifty-nine patients (489 eyes) were enrolled in the prospective study. At baseline, 20% had no or mild VA loss, and 64% had areas of DDAF with an average lesion area of 4.0±4.4 mm(2) (range, 0.03-24.24 mm(2)). The mean retinal sensitivity with MP was 10.8±5.0 dB. CONCLUSIONS: The ProgStar cohorts have baseline characteristics that encompass a wide range of disease severity and are expected to provide valuable data on progression based on serial quantitative measurements derived from multiple methods, which will be critical to the design of planned clinical trials.
Authors: Maria Fernanda Abalem; Benjamin Otte; Chris Andrews; Katherine A Joltikov; Kari Branham; Abigail T Fahim; Dana Schlegel; Cynthia X Qian; John R Heckenlively; Thiran Jayasundera Journal: Am J Ophthalmol Date: 2017-10-14 Impact factor: 5.258
Authors: Peter Y Zhao; Maria Fernanda Abalem; Daniel Nadelman; Cynthia X Qian; Kari Branham; Dana Schlegel; Naheed Khan; John R Heckenlively; Thiran Jayasundera Journal: Am J Ophthalmol Date: 2017-12-27 Impact factor: 5.258
Authors: Rupert W Strauss; Beatriz Muñoz; Alexander Ho; Anamika Jha; Michel Michaelides; Artur V Cideciyan; Isabelle Audo; David G Birch; Amir H Hariri; Muneeswar G Nittala; SriniVas Sadda; Sheila West; Hendrik P N Scholl Journal: JAMA Ophthalmol Date: 2017-11-01 Impact factor: 7.389
Authors: Rupert W Strauss; Beatriz Muñoz; Alex Ho; Anamika Jha; Michel Michaelides; Saddek Mohand-Said; Artur V Cideciyan; David Birch; Amir H Hariri; Muneeswar G Nittala; SriniVas Sadda; Hendrik P N Scholl Journal: JAMA Ophthalmol Date: 2017-07-01 Impact factor: 7.389
Authors: Maria Fernanda Abalem; Cynthia X Qian; Kari Branham; Dana Schlegel; Abigail T Fahim; Naheed W Khan; John R Heckenlively; K Thiran Jayasundera Journal: Ophthalmic Genet Date: 2017-07-20 Impact factor: 1.803
Authors: Etienne M Schönbach; Rupert W Strauss; Beatriz Muñoz; Yulia Wolfson; Mohamed A Ibrahim; David G Birch; Eberhart Zrenner; Janet S Sunness; Michael S Ip; SriniVas R Sadda; Sheila K West; Hendrik P N Scholl Journal: JAMA Ophthalmol Date: 2020-07-01 Impact factor: 7.389
Authors: Xiangrong Kong; Kaoru Fujinami; Rupert W Strauss; Beatriz Munoz; Sheila K West; Artur V Cideciyan; Michel Michaelides; Mohamed Ahmed; Ann-Margret Ervin; Etienne Schönbach; Janet K Cheetham; Hendrik P N Scholl Journal: JAMA Ophthalmol Date: 2018-08-01 Impact factor: 7.389