Macular dystrophies are a group of inherited eye conditions that affect the macula. The macula is in the center of the retina, the light sensitive part at the back of the eye. In people with macular dystrophies, some of the cells in the macula gradually stop working and may die over time. This leads to vision loss in the center of the eye. Side vision (peripheral vision) is mostly unaffected. Stargardt disease (STGD) is a type of macular dystrophy which is caused by 1 faulty gene (ABCA4). Vision loss most typically happens in childhood, but many people do not develop it until they are adults. As well as STGD, there are other macular dystrophies that look very similar to STGD but that are caused by many other different genes. Together, STGD and STGD-like conditions can be called STGD-type macular dystrophies. This is because they look the same clinically and have similar symptoms. Since different genes can cause these conditions, genetic testing is the only way to be sure which specific condition a person has. In this study, researchers want to learn if the disease progresses in a similar way in people with STGD and STGD-like macular dystrophies. People taking part in the study will continue to manage their condition, as agreed with their own doctor. People will visit their clinic every 6 months to have various standard eye tests and imaging. The information collected will include questions about people's wellbeing, general health, medication and supplements taken, and daily activities. Children over 6 years old and adults with STGD-type macular dystrophies may take part in this study. They will be in the study for up to 24 months (2 years). The study sponsor (Astellas) will not decide how people's condition is managed. However, the sponsor will provide instructions on when people visit their clinic and what is recorded during the study. If available, medical records, clinical and imaging data from previous visits going back 24 months will also be reviewed.
Study Type
OBSERVATIONAL
Enrollment
90
No investigational drug will be administered to participants in this study.
Associated Retina Consultants
Phoenix, Arizona, United States
RECRUITINGStanford University School of Medicine
Palo Alto, California, United States
RECRUITINGUniversity of California Health - UC Davis
Sacramento, California, United States
RECRUITINGUniversity of Florida Health - UF Health Jacksonville
Jacksonville, Florida, United States
RECRUITINGUniversity of Miami Health System - Bascom Palmer Eye Institute
Miami, Florida, United States
RECRUITINGUniversity of Illinois Chicago - UI Health
Chicago, Illinois, United States
RECRUITINGUniversity of Michigan Health - Kellogg Eye Center
Ann Arbor, Michigan, United States
RECRUITINGDeep Blue Retina
Southaven, Mississippi, United States
RECRUITINGDuke Eye Center
Durham, North Carolina, United States
RECRUITINGCincinnati Eye Institute
Cincinnati, Ohio, United States
RECRUITING...and 5 more locations
Change from baseline in best corrected visual acuity (BCVA) at month 12
BCVA will be measured by Early Treatment Diabetic Retinopathy Study (ETDRS) letters chart.
Time frame: Baseline and Month 12
Change from baseline in BCVA
BCVA will be measured by ETDRS letters chart.
Time frame: Baseline and Months 6, 18 and 24/Early Termination (ET)
Change from baseline in low luminance visual acuity (LLVA)
LLVA will be measured by ETDRS letters chart.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Change from baseline in Minnesota Reading Acuity Chart (MNREAD)
MNREAD evaluates reading acuity, critical print size and maximum reading speed.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Change from baseline in mesopic MP sensitivity
Defect-mapping, fundus-controlled microperimetry (MP) will be used to assess change in mesopic MP sensitivity.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Difference between eyes in change from baseline in BCVA
BCVA will be measured by ETDRS letters chart.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Difference between eyes in change from baseline in LLVA
LLVA will be measured by ETDRS letters chart.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Change from baseline in central retinal thickness (CRT)
CRT will be measured by spectral-domain optical coherence tomography (SD-OCT).
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Change from baseline in total photoreceptor thickness (TPT)
TPT will be measured by SD-OCT.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Change from baseline in ellipsoid zone (EZ) integrity
EZ integrity will be measured by SD-OCT.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Change from baseline in QDAF (Questionably Diminished Auto-Fluorescence)
QDAF will be measured with Fundus Auto-Fluorescence (FAF).
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Change from baseline in DDAF (Definitely Diminished Auto-Fluorescence)
DDAF will be measured with FAF.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Difference between eyes in change from baseline in EZ integrity
EZ integrity will be measured by SD-OCT.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Difference between eyes in change from baseline in CRT
CRT will be measured by SD-OCT.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Difference between eyes in change from baseline in TPT
TPT will be measured by SD-OCT.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Difference between eyes in change from baseline in QDAF
QDAF will be measured by FAF.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Difference between eyes in change from baseline in DDAF
DDAF will be measured by FAF.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Correlation between change from baseline in structural outcomes and functional outcomes
Structural outcomes include: CRT, TPT, EZ integrity and FAF. Functional outcomes include: BCVA, LLVA, MNREAD parameters and mesopic MP sensitivity.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Longitudinal Association Between the Rate of Change in Structural and Functional Retinal Outcomes Assessed by Joint Modelling Analysis
Change from baseline in structural outcomes (CRT, TPT, EZ Integrity) and functional outcomes (BCVA, Mesopic MP sensitivity) will be used for joint modelling analysis.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Rate of Disease Progression Over Time Associated with Structural and Functional Characteristics at Baseline
Baseline characteristics: Genotype (ABCA4 vs non-ABCA4), BCVA, presence and size of central EZ, CRT and TPT, mesopic MP sensitivity. Rate of disease progression over time: Change from baseline in BCVA, EZ area, CRT, TPT, FAF and MP sensitivity.
Time frame: Baseline and Months 6, 12, 18 and 24/ET
Intraclass correlation coefficient at baseline (2 repeated measurements) in BCVA
BCVA will be measured by ETDRS letters chart.
Time frame: Baseline
Intraclass correlation coefficient longitudinally between baseline and Month 12 in BCVA
BCVA will be measured by ETDRS letters chart.
Time frame: Baseline and Month 12
Intraclass correlation coefficient at baseline (2 repeated measurements) in LLVA
LLVA will be measured by ETDRS letters chart.
Time frame: Baseline
Intraclass correlation coefficient longitudinally between baseline and Month 12 in LLVA
LLVA will be measured by ETDRS letters chart.
Time frame: Baseline and Month 12
Intraclass correlation coefficient at baseline (2 repeated measurements) in MNREAD parameters
MNREAD evaluates reading acuity, critical print size and maximum reading speed.
Time frame: Baseline
Intraclass correlation coefficient longitudinally between baseline and Month 12 in MNREAD parameters
MNREAD evaluates reading acuity, critical print size and maximum reading speed.
Time frame: Baseline and Month 12
Intraclass correlation coefficient at baseline (2 repeated measurements) in mesopic MP sensitivity
MP will be used to assess mesopic sensitivity.
Time frame: Baseline
Intraclass correlation coefficient longitudinally between baseline and Month 12 in mesopic MP sensitivity
MP will be used to assess mesopic sensitivity.
Time frame: Baseline and Month 12
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