A Study to Learn How Stargardt-type Eye Conditions Progress in Children and Adults

NCT07425574 | Recruiting

• 1 other identifier: 2020-CL-0102
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 5

Brief Summary

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.

Conditions

Stargardt Disease; Stargardt Macular Dystrophy; Stargardt-like Macular Dystrophy

Keywords

Macular Dystrophies; Stargardt type; ABCA4 related STGD; STGD-like macular dystrophies

Outcome Measures

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.

  Baseline and Month 12

Secondary Outcomes (27)

• Change from baseline in BCVA

  Baseline and Months 6, 18 and 24/Early Termination (ET)

• Change from baseline in low luminance visual acuity (LLVA)

  Baseline and Months 6, 12, 18 and 24/ET

• Change from baseline in Minnesota Reading Acuity Chart (MNREAD)

  Baseline and Months 6, 12, 18 and 24/ET

• Change from baseline in mesopic MP sensitivity

  Baseline and Months 6, 12, 18 and 24/ET

• Difference between eyes in change from baseline in BCVA

  Baseline and Months 6, 12, 18 and 24/ET

Study Arms (1)

Participants with Stargardt-type eye conditions

Participants with STGD or STGD-like macular dystrophies.

Other: No Intervention

Interventions

No Intervention OTHER

No investigational drug will be administered to participants in this study.

Participants with Stargardt-type eye conditions

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants aged ≥ 6 years at baseline with clinically confirmed macular dystrophy of STGD-type clinical presentation

You may qualify if:

• Participant has a documented clinical diagnosis of macular dystrophy expressing a STGD-type clinical presentation and molecular confirmation, defined as either:
• 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.
• Participant has a spherical equivalent refractive error between + 8.00 D and - 10.00 D. Eyes with high myopia (\> -10.00 D) are permitted only if there are no signs of myopic degenerative macular changes.
• Participant has a BCVA ranging from 20/500 to 20/40 (equivalent to 15 to 70 ETDRS letters read at 1 meter)
• For participants in the \> 20/80 to ≤ 20/40 BCVA range (moderate visual impairment \[MVI\]): presence of a visible definite or probable residual EZ on SD-OCT (no minimum residue size required) and a minimum central mean subfield retinal thickness on optical coherence tomography (OCT) ≥ 150 µm
• For participants in the ≥ 20/500 to ≤ 20/80 BCVA range (SVI): presence of a residual outer nuclear layer (ONL) within the macular OCT scan area and measurable within the Age-Related Eye Disease Study (AREDS) grading grid and no residual EZ or minimal thickness of the ONL required
• Participant has evidence of retinal pigment epithelium (RPE) disease/damage on SD-OCT (hypertransmission defects \[HTDs\]) and/or FAF imaging.
• DDAF/cRORA areas are contained within the limits of the AREDS grading grid (≤ 12 disc areas), and physically distinct and separate from other areas of QDAF, DDAF and/or hyper-AF that may be present outside the AREDS grading grid, and
• Participant is able to comply with the protocol and willing to undertake all scheduled visits and assessments during the total study period.
• Participant is deemed capable of performing reliably all tests required for participation.

You may not qualify if:

• 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.
• Participant has a history or evidence of severe cardiac disease (e.g., New York Heart Association Functional Class III or IV), clinical evidence of unstable angina, acute coronary syndrome, myocardial infarction or revascularization within 6 months prior to screening.
• Participant has a history or evidence of ventricular tachyarrhythmia requiring ongoing treatment.
• Participant has a significant cardiovascular or cerebrovascular disease, including a history of stroke within 12 months prior to screening.
• Participant has another known or suspected molecular diagnosis of macular or retinal disease (e.g., pathogenic mutations in other genes) that could confound interpretation of study outcomes, indicate a second concomitant retinal condition or suggest a different etiology for the macular disease.
• Participant has evidence or history of choroidal neovascularization.
• Participant has macular atrophy due to any cause other than a genetically or clinically confirmed diagnosis of STGD or STGD-like macular dystrophies.
• Participant has a known diagnosis of any form of uncontrolled glaucoma (for high tension glaucoma IOP \> 25 mmHg).
• Participant has and/or is receiving treatment for thyroid eye disease.
• Participant has diabetic retinopathy in excess of mild nonproliferative diabetic retinopathy (i.e., presents with widespread retinal microaneurysms, dot-blot hemorrhages, and cotton-wool retinal spots).
• Participant has any other disease(s) affecting the optic nerve.
• Participant has a history of anterior or posterior uveitis and/or presence of intraocular inflammation (≥ trace anterior chamber cell or flare), or history of idiopathic or autoimmune-associated uveitis in either eye. Note: A single, sporadic episode of anterior uveitis without recurrences in the past 5 years and not associated with chronic conditions that increase the likelihood of recurrence may be accepted on a case-by-case basis in consultation with the sponsor's medical monitor/lead.

Sponsors & Collaborators

• Astellas Pharma Global Development, Inc.: lead

Study Sites (5)

Associated Retina Consultants

Phoenix, Arizona, 85020, United States

RECRUITING

Stanford University School of Medicine

Palo Alto, California, 94303, United States

RECRUITING

Deep Blue Retina

Southaven, Mississippi, 38671, United States

RECRUITING

Duke Eye Center

Durham, North Carolina, 27710, United States

RECRUITING

Retina Foundation of the Southwest

Dallas, Texas, 75231, United States

RECRUITING

MeSH Terms

Conditions

Stargardt Disease; Macular Degeneration

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Medical Director

  Astellas Pharma Global Development, Inc.

  STUDY DIRECTOR

Central Study Contacts

Astellas Pharma Global Development, Inc.

CONTACT

800-888-7704; Astellas.registration@astellas.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 2, 2026
• First Posted: February 23, 2026
• Study Start: February 20, 2026
• Primary Completion (Estimated): July 31, 2028
• Study Completion (Estimated): July 31, 2028
• Last Updated: May 15, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (5)