title: The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.
abstract: OBJECTIVE
  To describe the design and baseline characteristics of patients enrolled into 2 natural history studies of Stargardt disease (STGD1).
  
  
  METHODS
  Multicenter retrospective and prospective cohort studies.
  
  
  METHODS
  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.
  
  
  METHODS
  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.affiliation: 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.
authors.forename: Rupert W
authors.initials: RW
authors.lastname: Strauss
authors.affiliation: Doheny Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, California.
authors.forename: Alex
authors.initials: A
authors.lastname: Ho
authors.affiliation: Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Muñoz
authors.affiliation: Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Artur V
authors.initials: AV
authors.lastname: Cideciyan
authors.affiliation: 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.
authors.forename: José-Alain
authors.initials: JA
authors.lastname: Sahel
authors.affiliation: Hoover Low Vision Rehabilitation Services, Greater Baltimore Medical Center, Baltimore, Maryland.
authors.forename: Janet S
authors.initials: JS
authors.lastname: Sunness
authors.affiliation: Retina Foundation of the Southwest, Dallas, Texas.
authors.forename: David G
authors.initials: DG
authors.lastname: Birch
authors.affiliation: Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah.
authors.forename: Paul S
authors.initials: PS
authors.lastname: Bernstein
authors.affiliation: Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, University College London, London, United Kingdom.
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
authors.affiliation: Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
authors.affiliation: Center for Ophthalmology, Eberhard-Karls University Hospital, Tuebingen, Germany.
authors.forename: Eberhart
authors.initials: E
authors.lastname: Zrenner
authors.affiliation: Doheny Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, California.
authors.forename: SriniVas
authors.initials: S
authors.lastname: Sadda
authors.affiliation: Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland; Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.
authors.forename: Ann-Margret
authors.initials: AM
authors.lastname: Ervin
authors.affiliation: Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland.
authors.forename: Sheila
authors.initials: S
authors.lastname: West
authors.affiliation: Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland. Electronic address: hscholl1@jhmi.edu.
authors.forename: Hendrik P N
authors.initials: HP
authors.lastname: Scholl
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D018450:Disease Progression; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D057092:Geographic Atrophy / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D061848:Optical Imaging; D011446:Prospective Studies; D012107:Research Design; D012160:Retina / Q000502:physiology; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D012189:Retrospective Studies; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters