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Observing the progression of Stargardt Disease Type 1

An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene

Observational Splice Bio · NCT06435000

This study is tracking how Stargardt Disease Type 1 progresses in about 75 people to better understand the condition and help improve future treatments.

Quick facts

Study typeObservational
Enrollment75 (estimated)
Ages12 Years to 65 Years
SexAll
SponsorSplice Bio Industry-sponsored
Locations20 sites (San Diego, California and 19 other locations)
Trial IDNCT06435000 on ClinicalTrials.gov

What this trial studies

This observational study aims to follow the progression of Stargardt Disease Type 1 (STGD1) caused by bi-allelic mutations in the ABCA4 gene. It will enroll approximately 75 subjects across multiple centers to gather comprehensive data on the disease's clinical features, rate of progression, and other important factors. By understanding the natural history of STGD1, the study seeks to inform the design of future interventional trials and improve patient outcomes. The study will assess demographic, genotypic, and phenotypic characteristics of participants over time.

Who should consider this trial

Good fit: Ideal candidates are individuals aged 12-65 with a confirmed diagnosis of STGD1 and evidence of disease progression.

Not a fit: Patients with STGD1 who do not meet the eligibility criteria or have stable disease without progression may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of STGD1 and guide the development of effective therapies.

How similar studies have performed: Previous studies, such as ProgStar, have successfully evaluated the progression of Stargardt Disease, indicating that this approach is supported by existing research.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria:

1. Provide written consent
2. Are male or female aged 12-65 years old
3. Have a diagnosis of STGD1 caused by bi-allelic likely pathogenic or pathogenic variants in the ABCA4 gene confirmed genotypically by an accredited genotyping laboratory
4. Have a history of STGD1 progression within the last 2 years, in the opinion of the investigator.
5. Eligible eye(s) must have:

   1. BCVA of between 24-88 ETDRS letters, inclusive (20/20 - 20/320 Snellen equivalent, 0.0-1.2 logMAR) at the Screening Visit.
   2. Clinical evidence of a macular lesion phenotypically consistent with Stargardt Disease.
   3. Fundus autofluorescence (FAF) measurement of definitely decreased autofluorescence (DDAF) as measured by the Central Reading Center (CRC).
   4. Total lesion must be imaged in its entirety.
   5. All total lesion borders must be ≥300 microns from all image edges.
6. Eligible eye(s) must have clear ocular media and adequate pupillary dilation, including no allergy to dilating eyedrops, to permit good quality retinal imaging.

Exclusion Criteria:

1. Are an immediate family member (e.g., child, sibling) of the Sponsor or study site personnel.
2. Have any concurrent ocular disease that would affect study procedures or outcomes (e.g., cataracts; subjects can be enrolled 90 days after successful cataract surgery) in eligible eyes.
3. Have two likely pathogenic or pathogenic variants (not STGD1) in autosomal recessive inherited retinal dystrophy (IRD) genes or a single likely pathogenic or pathogenic variant in autosomal dominant or X-linked IRD genes.
4. Have had any intraocular surgery or thermal laser within 90 days of study entry or any prior thermal laser in the macular region within the eligible eye(s).
5. Have any major surgical procedure within 30 days of the Screening Visit or planned or anticipated major surgery during the study period.
6. Are unwilling to stop taking the following products at Screening and throughout the study:

   1. Supplements containing vitamin A or beta-carotene, liver-based products.
   2. Prescription oral retinoids.
7. Have actively participated in an investigational therapy study or have received any investigational therapy within 90 days of the Screening Visit or 5 half-lives, whichever is longer. Note: any ophthalmic history of gene therapy, stem cell therapy, surgical implantation of prosthetic retinal chips, or intravitreal or sub-retinal injections exclude the subject from study participation.
8. Have known serious allergies to the fluorescein dye that might be used to measure intraocular pressure (IOP), ocular dilating drops, topical ocular anesthetic, or any history of anaphylaxis reaction.
9. Have a history of amblyopia in the eligible eye(s).
10. Have any significant ocular or non-ocular disease/disorder (or medication and/or laboratory test abnormalities) which, in the opinion of the investigator and with concurrence of the Medical Monitor, may either put the subject at risk because of participation in the study, may influence the results of the study, or affect the subject's ability to participate in the study.

Where this trial is running

San Diego, California and 19 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions StargardtStargardt's DiseaseStargardt DiseaseSTGD1POLARISSplicebioABCA4
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.