Observing the progression of Stargardt Disease Type 1

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Shiley Eye Institute
  San Diego, California, United States Recruiting
• UCHealth Sue Anschutz-Rodgers Eye Center
  Aurora, Colorado, United States Recruiting
• Vitreo Retinal Associates
  Gainesville, Florida, United States Recruiting
• Bascom Palmer Eye Institute
  Miami, Florida, United States Recruiting
• Emory University
  Atlanta, Georgia, United States Recruiting
• Wilmer Eye Institute, Johns Hopkins University MD 21287
  Baltimore, Maryland, United States Recruiting

Study contacts

• Study coordinator: SpliceBio
• Email: clinicaltrials@splice.bio
• Phone: +34 934 02 04 56

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.