A Study to Learn How Stargardt-type Eye Conditions Progress in Children and Adults
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age6+
SponsorAstellas Pharma Global Development, Inc.
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
ABCA4-associated disease: presence of biallelic (pathogenic or likely pathogenic) ABCA4 variants, or one definite disease-causing ABCA4 variant together with a typical phenotype consistent with STGD.
STGD-like macular dystrophy: presence of one or more pathogenic variants in a gene known to cause macular dystrophy, as appropriate for its expected inheritance mode. Note: All genetic testing should be performed by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory or equivalent whenever possible. Acceptable documentation includes a copy of the genetic test report, laboratory certification statement, or clinical notes explicitly referencing CLIA certification. Predicted pathogenic variant of uncertain significance (VUS) that cannot be confirmed by standard laboratory criteria as certainly disease-causing (novel mutations) will be considered on a case by-case basis.
Participant has sufficiently clear ocular media and adequate pupillary dilation to allow for all imaging procedures.
Participant has intraocular pressure (IOP) both at screening and baseline of ≤ 21 mmHg measured by applanation tonometry. Note: Participant who is on topical IOP lowering treatment may also be included.
Disqualifiers
Participant has a known history of significant systemic disease (e.g., uncontrolled hepatitis, pancreatitis, cirrhosis, liver failure, uncontrolled thyroid disease or immunocompromising conditions such as human immunodeficiency virus [HIV]) that could impact ocular health or confound study assessments, based on medical history or prior clinical documentation.
Participant has an autoimmune condition that requires treatment with immunomodulatory therapy and/or biologics that cause immunosuppression.
Participant has a known diagnosis of diabetes mellitus with a documented hemoglobin A1c (HbA1c) value ≥ 7% 3 months prior to screening and based on available medical records. If the documented HbA1c is ≥ 7% and there is no clinical history of diabetic symptoms, diabetic retinopathy, abnormal renal function (e.g., elevated creatinine), or glycosuria noted in medical records, the participant may be enrolled.
Participant has a known history of any systemic or metabolic condition, or physical examination finding that may significantly affect ocular health or interfere with the interpretation of study assessments.
Trial population
Participants aged ≥ 6 years at baseline with clinically confirmed macular dystrophy of STGD-type clinical presentation
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
No Intervention
Other interventionNo investigational drug will be administered to participants in this study.
Treatment groups
90 Participants
are divided into 1 treatment groupGroup A: Participants with Stargardt-type eye conditions1 intervention
Trial outcomes
Primary outcomes
1
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 12Secondary outcomes
1
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)2
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/ET3
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/ET4
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/ETSponsors and contacts
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Source ClinicalTrials.gov