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| Name | Class |
|---|---|
| United States Department of Defense | FED |
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Stargardt disease is currently an incurable and untreatable macular dystrophy that causes severe visual loss in children and young adults, thereby causing enormous morbidity with economic, psychological, emotional, and social implications. There are no FDA approved therapeutic treatments for this disease. Therefore, the objective of this study is to collect natural history data from a large population of children and adults in order to evaluate possible efficacy measures for planned clinical trials.
Participants will be recruited from each Investigator's own patient population as the study requires the availability of both multiyear retrospective data, as well as ongoing prospectively collected data. A concurrent ancillary study (SMART study) is also being conducted with a subset of the prospective study patients during their regular ProgSTAR study visits to expand the collection of retinal images to include microperimetry measurements gathered under scotopic (low light) conditions.
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| Measure | Description | Time Frame |
|---|---|---|
| Yearly Progression Rate of Atrophic Lesions Using Fundus Autofluorescence (FAF) Images | Yearly increase in area of decreased auto-fluorescence (DAF) which is defined as the sum of definite and questionable decreased auto-fluorescence | 2-12 years |
| Measure | Description | Time Frame |
|---|---|---|
| Yearly Rate of Loss of Retinal Sensitivity as Measured by Scotopic Microperimetry (MP) | The yearly rate of change in retinal sensitivity. Sensitivity tested with a Nidek MP-1 machine using a modified Humphrey 10-2 grid. The sensitivity was the average sensitivity from a 68-points test pattern (Prospective cohort only) | 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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The study population shall consist of up to 250 Stargardt disease patients (minimum of 150 patients) recruited at up to 14 clinical centers across the US and Europe. Must be at least 6 years old, able to cooperate in performing the examinations and be willing to attend regular 6 month follow-up visits for up to 24 months. Must present with atrophic lesions secondary to STGD and previously genotyped (at least 2 confirmed pathogenic mutations in the ABCA4 gene). If only 1 ABCA4 allele contains a pathogenic mutation, then the patient needs typical phenotype, i.e. at least one eye must have flecks at the level of the retinal pigment epithelium typical for STGD. Best-corrected visual acuity (BCVA) must be 20 ETDRS letters (20/400 Snellen equivalent) or better.
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| Name | Affiliation | Role |
|---|---|---|
| Hendrik Scholl, MD | Wilmer Eye Institute at the Johns Hopkins University | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Greater Baltimore Medical Center | Baltimore | Maryland | 21204 | United States | ||
| Wilmer Eye Institute, Johns Hopkins University |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31047397 | Background | Schonbach EM, Ibrahim MA, Strauss RW, Birch DG, Cideciyan AV, Hahn GA, Ho A, Kong X, Nasser F, Sunness JS, Zrenner E, Sadda SR, West SK, Scholl HPN; Progression of Stargardt Disease Study Group. Fixation Location and Stability Using the MP-1 Microperimeter in Stargardt Disease: ProgStar Report No. 3. Ophthalmol Retina. 2017 Jan-Feb;1(1):68-76. doi: 10.1016/j.oret.2016.08.009. Epub 2016 Oct 31. | |
| 31047445 |
| Label | URL |
|---|---|
| Study Website | View source |
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| ID | Title | Description |
|---|---|---|
| FG000 | Retrospective Cohort | Patients with at least two pathogenic mutations in the ABCA4 gene (or one mutation, but the clinical phenotype of flecks at the level of the RPE typical for STGD1). Participant's data are from clinical examinations and central reading center (RC) grading of retinal imaging (fundus auto-fluorescence, and spectral domain optical coherence tomography (OCT). |
| FG001 | Prospective Cohort | Patients with at least two pathogenic mutations in the ABCA4 gene (or one mutation, but the clinical phenotype of flecks at the level of the RPE typical for STGD1). Participant's data are from standardized clinical examinations and central reading center (RC) grading of retinal imaging (fundus auto-fluorescence, spectral domain optical coherence tomography (OCT) and micro-perimetry (optional). |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total Study - Retrospective |
| |||||||||||||
| Total Study - Prospective |
|
In Retrospective cohort, 251 participants contributed 433 eyes. In Prospecitive cohort, 259 participants contributed 489 eyes.
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| ID | Title | Description |
|---|---|---|
| BG000 | Retrospective Cohort | Subjects with at least two pathogenic mutations in the ABCA4 gene (or one mutation, but the clinical phenotype of flecks at the level of the RPE typical for STGD1). Clinical data from multiple centers extracted from medical records. Participants were to have at least two visits with at least one of the study image modalities (fundus auto-fluorescence, micro-perimetry, or spectral domain optical coherence tomography (OCT)) |
| Units | Counts |
|---|---|
| Participants |
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| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Yearly Progression Rate of Atrophic Lesions Using Fundus Autofluorescence (FAF) Images | Yearly increase in area of decreased auto-fluorescence (DAF) which is defined as the sum of definite and questionable decreased auto-fluorescence | Eyes of participants with at least 2 visits with gradable fundus auto-fluorescence images with atrophic lesions present | Posted | Mean | 95% Confidence Interval | mm^2/year | 2-12 years | eyes | eyes |
|
Adverse events were not collected in this natural history study
As there was no intervention in this study, adverse events were not collected
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Retrospective Cohort | Subjects with at least two pathogenic mutations in the ABCA4 gene (or one mutation, but the clinical phenotype of flecks at the level of the RPE typical for STGD1). Clinical data from multiple centers extracted from medical records. Participants should had at least two visits with at least one of the study image modalities (fundus auto-fluorescence, micro-perimetry, or spectral domain optical coherence tomography (OCT)). Adverse events were not collected |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Chief Scientific Officer | Foundation Fighting Blindness | 410-423-0600 | info@FightBlindness.org |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Mar 11, 2013 | Mar 1, 2019 | Prot_000.pdf |
| SAP | No | Yes | No | Statistical Analysis Plan | May 19, 2018 | Oct 25, 2019 | SAP_001.pdf |
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| ID | Term |
|---|---|
| D000080362 | Stargardt Disease |
| D012162 | Retinal Degeneration |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D008268 | Macular Degeneration |
| D012164 | Retinal Diseases |
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| Yearly Rate of Visual Acuity Loss |
Yearly change of visual acuity. Visual acuity measures of best-corrected or presenting VA extracted from medical record charts. Prospective cohort is best-corrected visual acuity using Early-Treatment Diabetic Retinopathy study methods |
| 2-12 years |
| Difference in the Rate of Retinal Sensitivity Change Per Year Between Photopic and Scotopic Micro-perimetry Testing | Difference in the yearly rate of change in retinal sensitivity under photopic and scotopic conditions. Sensitivity tested with a Nidek MP-1. Scotopic sensitivity was obtained using a 40 points test pattern, and photopic sensitivity was obtained using a 68 points test pattern in a subset of Prospective cohort patients | 2 years |
| Yearly Rate of Loss of Overall Retinal Thickness | Yearly decrease of overall retinal thickness using spectral domain optical coherence tomography (SD-OCT) scans from a 20° x 20° scan area centered on the fovea. Data are only available for the Prospective cohort. | Participants followed at Baseline, 6 months, 12 months and 24 months |
| Yearly Rate of Loss of Outer Ring Retinal Thickness | Yearly decrease of outer ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Outer ring defined as ETDRS fields 1-4. | Participants followed at Baseline, 6 months, 12 months and 24 months |
| Yearly Rate of Loss of the Inner Ring Retinal Thickness | Yearly decrease of the inner ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Inner ring defined as ETDRS fields 5-8. Data are only available for the Prospective cohort. | Participants followed at Baseline, 6 months, 12 months and 24 months |
| Yearly Rate of Loss of the Central Ring Retinal Thickness | Yearly decrease of the central ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Central area defined as ETDRS fields 9. Data are only available for the Prospective cohort. | Participants followed at Baseline, 6 months, 12 months and 24 months |
| Baltimore |
| Maryland |
| 21287 |
| United States |
| Cole Eye Institute, Cleveland Clinic | Cleveland | Ohio | 44195 | United States |
| Scheie Eye Institute, University of Pennsylvania | Philadelphia | Pennsylvania | 19104 | United States |
| Retina Foundation of the Southwest | Dallas | Texas | 75231 | United States |
| Moran Eye Center, University of Utah | Salt Lake City | Utah | 84132 | United States |
| Institut de la Vision | Paris | 75012 | France |
| Center for Ophthalmic Research, University of Teubingen | Tübingen | 72076 | Germany |
| Moorfields Eye Hospital | London | EC1V 2PD | United Kingdom |
| Background |
| Kong X, West SK, Strauss RW, Munoz B, Cideciyan AV, Michaelides M, Ho A, Ahmed M, Schonbach EM, Cheetham JK, Ervin AM, Scholl HPN; ProgStar study group. Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4. Ophthalmol Retina. 2017 Nov-Dec;1(6):514-523. doi: 10.1016/j.oret.2017.02.008. Epub 2017 Apr 28. |
| 28542697 | Background | Strauss RW, Munoz B, Ho A, Jha A, Michaelides M, Mohand-Said S, Cideciyan AV, Birch D, Hariri AH, Nittala MG, Sadda S, Scholl HPN; ProgStar Study Group. Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5. JAMA Ophthalmol. 2017 Jul 1;135(7):687-695. doi: 10.1001/jamaophthalmol.2017.1121. |
| 28542693 | Background | Schonbach EM, Wolfson Y, Strauss RW, Ibrahim MA, Kong X, Munoz B, Birch DG, Cideciyan AV, Hahn GA, Nittala M, Sunness JS, Sadda SR, West SK, Scholl HPN; ProgStar Study Group. Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7. JAMA Ophthalmol. 2017 Jul 1;135(7):696-703. doi: 10.1001/jamaophthalmol.2017.1162. |
| 26786511 | Result | Strauss RW, Ho A, Munoz B, Cideciyan AV, Sahel JA, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin AM, West S, Scholl HP; Progression of Stargardt Disease Study Group. The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. Ophthalmology. 2016 Apr;123(4):817-28. doi: 10.1016/j.ophtha.2015.12.009. Epub 2016 Jan 16. |
| 27378015 | Result | Kong X, Strauss RW, Michaelides M, Cideciyan AV, Sahel JA, Munoz B, West S, Scholl HP; ProgStar Study Group. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). Ophthalmology. 2016 Sep;123(9):1887-97. doi: 10.1016/j.ophtha.2016.05.027. Epub 2016 Jul 2. |
| 28549516 | Result | Kong X, Strauss RW, Cideciyan AV, Michaelides M, Sahel JA, Munoz B, Ahmed M, Ervin AM, West SK, Cheetham JK, Scholl HPN; ProgStar Study Group. Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6. Ophthalmology. 2017 Nov;124(11):1640-1651. doi: 10.1016/j.ophtha.2017.04.026. Epub 2017 May 23. |
| 29049437 | Result | Strauss RW, Munoz B, Ho A, Jha A, Michaelides M, Cideciyan AV, Audo I, Birch DG, Hariri AH, Nittala MG, Sadda S, West S, Scholl HPN; ProgStar Study Group. Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9). JAMA Ophthalmol. 2017 Nov 1;135(11):1232-1241. doi: 10.1001/jamaophthalmol.2017.4152. |
| 29902293 | Result | Kong X, Fujinami K, Strauss RW, Munoz B, West SK, Cideciyan AV, Michaelides M, Ahmed M, Ervin AM, Schonbach E, Cheetham JK, Scholl HPN; ProgStar Study Group. Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10. JAMA Ophthalmol. 2018 Aug 1;136(8):920-928. doi: 10.1001/jamaophthalmol.2018.2198. |
| Study Sponsor website | View source |
| NOT COMPLETED |
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| BG001 | Prospective Cohort | Multicenter prospective longitudinal cohort. Patients with at least two pathogenic mutations in the ABCA4 gene (or one mutation, but the clinical phenotype of flecks at the level of the RPE typical for STGD1). Participants were to have standardized visits at baseline and every 6 months for 24 months. Participant's data are from clinical examinations and central RC grading of retinal imaging (fundus auto-fluorescence, spectral domain optical coherence tomography (OCT)) and micro-perimetry. |
| BG002 | Total | Total of all reporting groups |
| Participants |
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| Sex: Female, Male | Count of Participants | Participants |
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| Race/Ethnicity, Customized | Count of Participants | Participants |
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| Region of Enrollment | Number | participants |
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| OG001 | Prospective Cohort | Multicenter prospective longitudinal cohort. Patients with at least two pathogenic mutations in the ABCA4 gene (or one mutation, but the clinical phenotype of flecks at the level of the RPE typical for STGD1). Participants were to have standardized visits at baseline and every 6 months for 24 months. Participant's data are from clinical examinations and central RC grading of retinal imaging (fundus auto-fluorescence, spectral domain optical coherence tomography (OCT)) and micro-perimetry. |
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| Secondary | Yearly Rate of Loss of Retinal Sensitivity as Measured by Scotopic Microperimetry (MP) | The yearly rate of change in retinal sensitivity. Sensitivity tested with a Nidek MP-1 machine using a modified Humphrey 10-2 grid. The sensitivity was the average sensitivity from a 68-points test pattern (Prospective cohort only) | Microperimetry data are available for only the Prospective cohort at centers with required equipment | Posted | Mean | 95% Confidence Interval | dB/year | 2 years | eyes | eyes |
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| Secondary | Yearly Rate of Visual Acuity Loss | Yearly change of visual acuity. Visual acuity measures of best-corrected or presenting VA extracted from medical record charts. Prospective cohort is best-corrected visual acuity using Early-Treatment Diabetic Retinopathy study methods | Posted | Mean | 95% Confidence Interval | logMAR/year | 2-12 years | eyes | eyes |
|
|
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| Secondary | Difference in the Rate of Retinal Sensitivity Change Per Year Between Photopic and Scotopic Micro-perimetry Testing | Difference in the yearly rate of change in retinal sensitivity under photopic and scotopic conditions. Sensitivity tested with a Nidek MP-1. Scotopic sensitivity was obtained using a 40 points test pattern, and photopic sensitivity was obtained using a 68 points test pattern in a subset of Prospective cohort patients | Photopic microperimetry was obtained in a subset of patients, in a single designated study eye | Posted | Mean | 95% Confidence Interval | dB/year | 2 years | eyes | eyes |
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| Secondary | Yearly Rate of Loss of Overall Retinal Thickness | Yearly decrease of overall retinal thickness using spectral domain optical coherence tomography (SD-OCT) scans from a 20° x 20° scan area centered on the fovea. Data are only available for the Prospective cohort. | All visits of eligible eyes of the 258 participants with gradable overall thickness. Only OCT scans with adequate and fair quality are included | Posted | Mean | 95% Confidence Interval | microns/year | Participants followed at Baseline, 6 months, 12 months and 24 months | eyes | eyes |
|
|
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| Secondary | Yearly Rate of Loss of Outer Ring Retinal Thickness | Yearly decrease of outer ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Outer ring defined as ETDRS fields 1-4. | All visits of eligible eyes of the 258 participants with gradable thickness in the outer ring. Only OCT scans with adequate and fair quality are included | Posted | Mean | 95% Confidence Interval | microns/year | Participants followed at Baseline, 6 months, 12 months and 24 months | eyes | eyes |
|
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| Secondary | Yearly Rate of Loss of the Inner Ring Retinal Thickness | Yearly decrease of the inner ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Inner ring defined as ETDRS fields 5-8. Data are only available for the Prospective cohort. | All visits of eligible eyes of the 258 participants with gradable thickness in the inner ring. Only OCT scans with adequate and fair quality are included | Posted | Mean | 95% Confidence Interval | microns/year | Participants followed at Baseline, 6 months, 12 months and 24 months | eyes | eyes |
|
|
|
| Secondary | Yearly Rate of Loss of the Central Ring Retinal Thickness | Yearly decrease of the central ring retinal thickness using SD-OCT scans from a 20° x 20° scan area centered on the fovea. Central area defined as ETDRS fields 9. Data are only available for the Prospective cohort. | All visits of eligible eyes of the 258 participants with gradable thickness in the inner ring. Only OCT scans with adequate and fair quality are included | Posted | Mean | 95% Confidence Interval | microns/year | Participants followed at Baseline, 6 months, 12 months and 24 months | eyes | eyes |
|
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| 0 |
| 251 |
| 0 |
| 0 |
| 0 |
| 0 |
| EG001 | Prospective Cohort | Multicenter prospective longitudinal cohort. Patients with at least two pathogenic mutations in the ABCA4 gene (or one mutation, but the clinical phenotype of flecks at the level of the RPE typical for STGD1). Participants had standardized visits at baseline and every 6 months for 24 months. Participant's data are from clinical examinations and central RC grading of retinal imaging (fundus auto-fluorescence, spectral domain optical coherence tomography (OCT)) and micro-perimetry. Adverse events were not collected | 1 | 259 | 0 | 0 | 0 | 0 |
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| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |