Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies (ProgSTAR)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01977846
Recruitment Status : Completed
First Posted : November 7, 2013
Results First Posted : November 1, 2019
Last Update Posted : November 1, 2019
Sponsor:
Collaborator:
United States Department of Defense
Information provided by (Responsible Party):
Foundation Fighting Blindness

Study Type Observational
Study Design Observational Model: Case-Only;   Time Perspective: Other
Condition Stargardt Disease
Enrollment 259
Recruitment Details  
Pre-assignment Details  
Arm/Group Title Retrospective Cohort Prospective Cohort
Hide Arm/Group Description 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). 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).
Period Title: Total Study - Retrospective
Started 251 0
Completed 251 0
Not Completed 0 0
Period Title: Total Study - Prospective
Started 0 259
Completed 0 230
Not Completed 0 29
Reason Not Completed
Death             0             1
Lost to Follow-up             0             8
Withdrawal by Subject             0             13
Not available at time of visit             0             5
No show             0             1
Protocol Violation             0             1
Arm/Group Title Retrospective Cohort Prospective Cohort Total
Hide Arm/Group Description 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)) 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. Total of all reporting groups
Overall Number of Baseline Participants 251 259 510
Hide Baseline Analysis Population Description
In Retrospective cohort, 251 participants contributed 433 eyes. In Prospecitive cohort, 259 participants contributed 489 eyes.
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 251 participants 259 participants 510 participants
<=18 years
69
  27.5%
51
  19.7%
120
  23.5%
Between 18 and 65 years
179
  71.3%
201
  77.6%
380
  74.5%
>=65 years
3
   1.2%
7
   2.7%
10
   2.0%
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 251 participants 259 participants 510 participants
Female
149
  59.4%
141
  54.4%
290
  56.9%
Male
102
  40.6%
118
  45.6%
220
  43.1%
Race/Ethnicity, Customized  
Measure Type: Count of Participants
Unit of measure:  Participants
Race Number Analyzed 251 participants 259 participants 510 participants
White/Middle Eastern
174
  69.3%
222
  85.7%
396
  77.6%
Black or African American
14
   5.6%
20
   7.7%
34
   6.7%
Asian/Indian
10
   4.0%
10
   3.9%
20
   3.9%
Other
5
   2.0%
1
   0.4%
6
   1.2%
More than one race
2
   0.8%
2
   0.8%
4
   0.8%
Don't know/missing
46
  18.3%
4
   1.5%
50
   9.8%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
Number Analyzed 251 participants 259 participants 510 participants
United States 90 137 227
United Kingdom 79 30 109
France 49 48 97
Germany 33 44 77
1.Primary Outcome
Title Yearly Progression Rate of Atrophic Lesions Using Fundus Autofluorescence (FAF) Images
Hide Description Yearly increase in area of decreased auto-fluorescence (DAF) which is defined as the sum of definite and questionable decreased auto-fluorescence
Time Frame 2-12 years
Hide Outcome Measure Data
Hide Analysis Population Description
Eyes of participants with at least 2 visits with gradable fundus auto-fluorescence images with atrophic lesions present
Arm/Group Title Retrospective Cohort Prospective Cohort
Hide Arm/Group Description:
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))
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.
Overall Number of Participants Analyzed 215 259
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
386 489
Mean (95% Confidence Interval)
Unit of Measure: mm^2/year
0.35
(0.28 to 0.43)
0.64
(0.57 to 0.71)
2.Secondary Outcome
Title Yearly Rate of Loss of Retinal Sensitivity as Measured by Scotopic Microperimetry (MP)
Hide Description 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)
Time Frame 2 years
Hide Outcome Measure Data
Hide Analysis Population Description
Microperimetry data are available for only the Prospective cohort at centers with required equipment
Arm/Group Title Retrospective Cohort Prospective Cohort
Hide Arm/Group Description:
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))
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.
Overall Number of Participants Analyzed 0 238
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
0 449
Mean (95% Confidence Interval)
Unit of Measure: dB/year
-0.76
(-0.87 to -0.66)
3.Secondary Outcome
Title Yearly Rate of Visual Acuity Loss
Hide Description 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
Time Frame 2-12 years
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Retrospective Cohort Prospective Cohort
Hide Arm/Group Description:
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))
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.
Overall Number of Participants Analyzed 176 259
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
332 489
Mean (95% Confidence Interval)
Unit of Measure: logMAR/year
0.030
(0.026 to 0.043)
0.011
(0.004 to 0.018)
4.Secondary Outcome
Title Difference in the Rate of Retinal Sensitivity Change Per Year Between Photopic and Scotopic Micro-perimetry Testing
Hide Description 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
Time Frame 2 years
Hide Outcome Measure Data
Hide Analysis Population Description
Photopic microperimetry was obtained in a subset of patients, in a single designated study eye
Arm/Group Title Retrospective Cohort Prospective Cohort
Hide Arm/Group Description:
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))
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.
Overall Number of Participants Analyzed 0 118
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
0 118
Mean (95% Confidence Interval)
Unit of Measure: dB/year
-0.78
(-1.16 to -0.41)
5.Secondary Outcome
Title Yearly Rate of Loss of Overall Retinal Thickness
Hide Description 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.
Time Frame Participants followed at Baseline, 6 months, 12 months and 24 months
Hide Outcome Measure Data
Hide Analysis Population Description
All visits of eligible eyes of the 258 participants with gradable overall thickness. Only OCT scans with adequate and fair quality are included
Arm/Group Title Prospective Cohort
Hide Arm/Group Description:
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). OCT scans were graded by a central reading center.
Overall Number of Participants Analyzed 258
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
487
Mean (95% Confidence Interval)
Unit of Measure: microns/year
-2.85
(-3.19 to -2.52)
6.Secondary Outcome
Title Yearly Rate of Loss of Outer Ring Retinal Thickness
Hide Description 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.
Time Frame Participants followed at Baseline, 6 months, 12 months and 24 months
Hide Outcome Measure Data
Hide Analysis Population Description
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
Arm/Group Title Prospective Cohort
Hide Arm/Group Description:
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). OCT scans were graded by a central reading center.
Overall Number of Participants Analyzed 258
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
487
Mean (95% Confidence Interval)
Unit of Measure: microns/year
-2.84
(-3.19 to -2.50)
7.Secondary Outcome
Title Yearly Rate of Loss of the Inner Ring Retinal Thickness
Hide Description 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.
Time Frame Participants followed at Baseline, 6 months, 12 months and 24 months
Hide Outcome Measure Data
Hide Analysis Population Description
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
Arm/Group Title Prospective Cohort
Hide Arm/Group Description:
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). OCT scans were graded by a central reading center.
Overall Number of Participants Analyzed 258
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
487
Mean (95% Confidence Interval)
Unit of Measure: microns/year
-3.20
(-3.68 to -2.72)
8.Secondary Outcome
Title Yearly Rate of Loss of the Central Ring Retinal Thickness
Hide Description 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.
Time Frame Participants followed at Baseline, 6 months, 12 months and 24 months
Hide Outcome Measure Data
Hide Analysis Population Description
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
Arm/Group Title Prospective Cohort
Hide Arm/Group Description:
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). OCT scans were graded by a central reading center.
Overall Number of Participants Analyzed 258
Overall Number of Units Analyzed
Type of Units Analyzed: Eyes
487
Mean (95% Confidence Interval)
Unit of Measure: microns/year
-2.24
(-3.06 to -1.42)
Time Frame Adverse events were not collected in this natural history study
Adverse Event Reporting Description As there was no intervention in this study, adverse events were not collected
 
Arm/Group Title Retrospective Cohort Prospective Cohort
Hide Arm/Group Description 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 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
All-Cause Mortality
Retrospective Cohort Prospective Cohort
Affected / at Risk (%) Affected / at Risk (%)
Total   0/251 (0.00%)   1/259 (0.39%) 
Hide Serious Adverse Events
Retrospective Cohort Prospective Cohort
Affected / at Risk (%) Affected / at Risk (%)
Total   0/0   0/0 
Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Retrospective Cohort Prospective Cohort
Affected / at Risk (%) Affected / at Risk (%)
Total   0/0   0/0 
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Chief Scientific Officer
Organization: Foundation Fighting Blindness
Phone: 410-423-0600
EMail: info@FightBlindness.org
Publications of Results:
Other Publications:
Layout table for additonal information
Responsible Party: Foundation Fighting Blindness
ClinicalTrials.gov Identifier: NCT01977846    
Other Study ID Numbers: FFBCRI-PROGSTAR-01/02
First Submitted: October 31, 2013
First Posted: November 7, 2013
Results First Submitted: May 30, 2018
Results First Posted: November 1, 2019
Last Update Posted: November 1, 2019