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An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene

Sponsor: Splice Bio

NCT ID: NCT06435000

View on ClinicalTrials.gov ↗

At a glance

What the study gets you
Health checks and monitoring — no treatment given
Type of study
Observational (no treatment given)
Time in hospital
In-person visits at study sites — visit count not specified by the sponsor
Drug or intervention
Not specified by the sponsor
How long the study runs
Study runs about 35 months (dates as stated)
About the drug or intervention
Not specified by the sponsor
Patient visit burden
Not specified by the sponsor

In plain English

This is an observational study for people aged 12 to 65 with Stargardt disease type 1 (STGD1), an inherited eye condition caused by changes in a gene called ABCA4. The study aims to follow how the disease progresses over time. It is run by Splice Bio.

Who can take part

  • You (or your child) are male or female, aged 12 to 65
  • You have a confirmed diagnosis of STGD1 caused by two faulty copies of the ABCA4 gene, confirmed by an approved genetic testing laboratory
  • Your Stargardt disease has got worse in the last 2 years, in the researcher's opinion
  • Your eligible eye(s) have vision between certain measured levels (roughly 20/20 to 20/320 on a Snellen chart) at the screening visit
  • Your eye(s) show a damaged area at the centre of the retina (the light-sensitive layer at the back of the eye) typical of Stargardt disease
  • A special retinal scan shows a clearly dark area where the retina is damaged, and the whole damaged area can be photographed clearly
  • Your eye(s) can be photographed well, including being able to have eye drops to widen the pupil, with no allergy to these drops
  • You give written consent to take part

Who may not be able to

  • You are a close family member of the study sponsor or study site staff
  • You have another eye condition that could affect the study (for example, cataracts, though you can join 90 days after successful cataract surgery)
  • You have gene changes causing a different inherited eye disease
  • You have had eye surgery or laser treatment in the last 90 days, or laser treatment on the centre of the retina before
  • You have had major surgery in the last 30 days, or plan major surgery during the study
  • You are unwilling to stop taking vitamin A or beta-carotene supplements, eating liver-based products, or taking oral retinoid medicines during the study
  • You have taken part in another study of an experimental treatment in the last 90 days (or longer for some medicines), or have ever had gene therapy, stem cell therapy, a retinal implant, or injections into or under the retina
  • You have serious allergies to fluorescein dye, eye-widening drops, numbing eye drops, or have ever had a severe allergic reaction
  • You have a 'lazy eye' (amblyopia) affecting the eligible eye(s)
  • You have another significant illness or health problem that, in the researchers' view, could put you at risk, affect the results, or make taking part difficult

What taking part involves

  • • This is an observational study, so there is no treatment given — the researchers will monitor your eyes and follow how your Stargardt disease changes over time
  • • You will need to avoid vitamin A or beta-carotene supplements, liver-based products, and oral retinoid medicines while taking part
  • • Study visits are expected to include retinal imaging and eye examinations with dilating drops, and possibly a dye test to measure pressure inside the eye

Time commitment: Number of visits and study length are not stated — ask the trial team.

Plain-English summary (AI-generated) from registry data. Not eligibility advice — only the trial team can confirm whether you can take part. Use the eligibility checker to see how your health profile matches this trial.

Type of study
Observing health over time
Ages
12 Years to 65 Years
Who
All
Number of participants
75
Started
2024-03-29
Last checked
2025-08

Plain English Summary

What is this study?

  • • Testing a new treatment for stargardt
  • • Clinical study - 75 participants
  • • This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75 subjects

Who can take part?

  • • Ages 12 Years to 65 Years
  • • Diagnosed with stargardt

Where?

  • • London - Moorfields Eye Hospital
  • • Leeds - Leeds Teaching Hospitals NHS Trust
  • • Manchester - University of Manchester - The Old St Mary's Hospital
  • • Oxford - Oxford Eye Hospital

This is a simplified summary. Always discuss with your doctor before making any decisions.

About This Trial

This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75 subjects

More detail

Comprehensive knowledge of a disease is essential to the design and conduct of well-controlled, interventional clinical trials. Understanding of the disease state is important for identifying the patient population for a clinical trial, study duration, and selection of clinically meaningful endpoints. Observational studies play an important role in the understanding of rare diseases and facilitating effective development of potential therapies. To support clinical research, observational studies can help define the clinical features of a rare disease, rate of progression, pathophysiology, and other important factors. Further, following the course of a disease over time allows investigators to identify demographic variables, genotypic and phenotypic features, and other characteristics that may correlate with disease and outcomes in the absence of treatment. Thus, observational studies are useful in guiding the design of therapeutic studies, including selection of the patient population, trial duration, and the types of outcome measures to evaluate efficacy and safety. Results of a natural history study evaluating the progression of atrophy secondary to Stargardt Disease have been published using retrospective and prospective cohorts of patients (ProgStar, Strauss et al., 2016). In summary, the current study is a prospective observational study of patients with STGD1, the aim of which is to further enhance understanding of disease progression and structural and functional markers that can be used to evaluate the efficacy and safety of therapeutic interventions, especially in light of advancements in imaging technology.

StargardtStargardt's DiseaseStargardt DiseaseSTGD1

How this trial compares with your answers

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What we know so far

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Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.

Eligibility at a Glance

Key info

  • Age: 12 Years - 65 Years
  • Who can join: All genders

What the study is looking for

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

Who cannot take part

  • ✗Are an immediate family member (e.g., child, sibling) of the Sponsor or study site personnel.
  • ✗Have any concurrent ocular disease that would affect study procedures or outcomes (e.g., cataracts; subjects can be...
  • ✗Have had any intraocular surgery or thermal laser within 90 days of study entry or any prior thermal laser in the...
  • ✗Have any major surgical procedure within 30 days of the Screening Visit or planned or anticipated major surgery...
  • ✗Are unwilling to stop taking the following products at Screening and throughout the study:
See the full 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 Is This Study? (4 UK sites)

Moorfields Eye Hospital

London EC1V 2PD, United Kingdom

Recruiting
Site contact (verified)
Site 201Principal Investigator

Leeds Teaching Hospitals NHS Trust

Leeds LS9 7T, United Kingdom

Recruiting
Site contact (verified)
Site 204Principal Investigator

University of Manchester - The Old St Mary's Hospital

Manchester M13 9WL, United Kingdom

Recruiting
Site contact (verified)
Site 203Principal Investigator

Oxford Eye Hospital

Oxford OX3 9DU, United Kingdom

Recruiting
Hospital R&D contact (matched)

Shahista Hussain

ouhtma@ouh.nhs.uk---

How to Get in Touch

SpliceBio

Sponsor contact

CONTACT

+34 934 02 04 56 clinicaltrials@splice.bio
Data sourced from ClinicalTrials.gov · Last verified: 2025-08