StargardtPOLARISNCT06435000
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
An observational study of Stargardt and Stargardt's Disease, run by Splice Bio at 20 sites in 3 countries.
Trial summary
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 Read more about this study
- Who is it for?
- Ages 12 to 65 years
- Conditions the study is for
- Stargardt, Stargardt's Disease, Stargardt Disease
- How many people
- 75 participants
- Where
- 20 sitesin 3 countries
- Study dates
- 29 Mar 2024to Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants will be selected that have a genetic and clinical diagnosis of STGD1 and fulfil all other entry criteria.
Who may be able to join
- 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 genotypically by an accredited genotyping laboratory
- Have a history of STGD1 progression within the last 2 years, in the opinion of the investigator.
- Eligible eye(s) must have:
- BCVA of between 24-88 ETDRS letters, inclusive (20/20 - 20/320 Snellen equivalent, 0.0-1.2 logMAR) at the Screening Visit.
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- Clinical evidence of a macular lesion phenotypically consistent with Stargardt Disease.
- Fundus autofluorescence (FAF) measurement of definitely decreased autofluorescence (DDAF) as measured by the Central Reading Center (CRC).
- Total lesion must be imaged in its entirety.
- All total lesion borders must be ≥300 microns from all image edges.
- Eligible eye(s) must have clear ocular media and adequate pupillary dilation, including no allergy to dilating eyedrops, to permit good quality retinal imaging.
Who cannot join
- 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 enrolled 90 days after successful cataract surgery) in eligible eyes.
- 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.
- 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).
- Have any major surgical procedure within 30 days of the Screening Visit or planned or anticipated major surgery during the study period.
- Are unwilling to stop taking the following products at Screening and throughout the study:
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- Supplements containing vitamin A or beta-carotene, liver-based products.
- Prescription oral retinoids.
- 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.
- 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.
- Have a history of amblyopia in the eligible eye(s).
- 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.
Trial locations and contacts
20 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
20 sites in 3 countries
United States14 sites, 14 recruiting
- Recruiting
Kellogg Clinical Research Center
Ann Arbor, Michigan, 48105
Site 106
- Recruiting
Emory University
Atlanta, Georgia, 30322
Site 107
- Recruiting
UCHealth Sue Anschutz-Rodgers Eye Center
Aurora, Colorado, 80045
Site 109
- Recruiting
Wilmer Eye Institute, Johns Hopkins University MD 21287
Baltimore, Maryland, 21287
Site 111
- Recruiting
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114
Center for Clinical Research
Site 105
- Recruiting
Retina Foundation of the Southwest
Dallas, Texas, 75231
Site 102
- Recruiting
Duke Eye Center
Durham, North Carolina, 27710
Site 110
- Recruiting
Vitreo Retinal Associates
Gainesville, Florida, 32607
Site 114
- Recruiting
University of Wisconsin, Madison
Madison, Wisconsin, 53715
Site 101
- Recruiting
Bascom Palmer Eye Institute
Miami, Florida, 33136
Site 104
- Recruiting
Columbia University Medical Center
New York, New York, 10032
Site 113
- Recruiting
CUIMC/Edward S. Harkness Eye Institute
New York, New York, 10032
Site 112
- Recruiting
Oregon Health & Science University
Portland, Oregon, 97239
Site 103
- Recruiting
Shiley Eye Institute
San Diego, California, 92093
Site 108
United Kingdom4 sites, 4 recruiting
- Recruiting
Leeds Teaching Hospitals NHS Trust
Leeds, LS9 7T
Site 204
- Recruiting
Moorfields Eye Hospital
London, London, EC1V 2PD
Site 201
- Recruiting
University of Manchester - The Old St Mary's Hospital
Manchester, M13 9WL
Site 203
- Recruiting
Oxford Eye Hospital
Oxford, OX3 9DU
OUH under the Eye Research Group Oxford
Germany2 sites, 2 recruiting
- Recruiting
Universitätsklinikum Bonn, Klinik für Augenheilkunde
Bonn, 53127
Site 302
- Recruiting
University Eye Hospital Tübingen
Tübingen, 72076
Site 301
About this study
Official title: 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
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
Read the detailed description
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.
- Conditions
- Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
- Keywords
- POLARIS, Splicebio, STGD1, ABCA4
- Medical subject headings
- Stargardt Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging
Measured: 96 weeks
Secondary outcomes (6)
Change from baseline in ellipsoid zone (EZ) area as measured by SD-OCT
Measured: 96 weeks
Change from baseline in BCVA using ETDRS
Measured: 96 weeks
Change from baseline in LLVA using ETDRS
Measured: 96 weeks
Change from baseline in retinal sensitivity based on macular microperimetry
Measured: 96 weeks
Change from baseline in contrast sensitivity scores
Measured: 96 weeks
Change from baseline using Patient Reported Outcome Questionnaires
Measured: 96 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 May 2024
- Study start29 Mar 2024
- Primary completionDec 2026 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for StargardtStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 75 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Splice Bio
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06435000
- Sponsor's protocol ID
- SB-CS-001
- Acronym
- POLARIS
- Status last verified
- Aug 2025
- First submitted
- 24 May 2024
- Last updated
- 19 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Sponsor will wait until data fully analyzed and published before considering sharing
Study at a glance
From the registry record, last updated by the sponsor on 19 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT06435000
- Acronym / sponsor ID
- POLARIS / SB-CS-001
- Conditions
- Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
- Keywords
- POLARIS, Splicebio, STGD1, ABCA4
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 75 participants (estimated)
- Lead sponsor
- Splice BioIndustry (pharma, biotech, devices)
- Study start
- 29 Mar 2024 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 30 May 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 12 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants will be selected that have a genetic and clinical diagnosis of STGD1 and fulfil all other entry criteria.
Key inclusion criteria (11 listed)
- 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 genotypically by an accredited genotyping laboratory
- Have a history of STGD1 progression within the last 2 years, in the opinion of the investigator.
- Eligible eye(s) must have:
Key exclusion criteria (12 listed)
- 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 enrolled 90 days after successful cataract surgery) in eligible eyes.
- 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.
- 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).
- Have any major surgical procedure within 30 days of the Screening Visit or planned or anticipated major surgery during the study period.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging
Time frame: 96 weeks
6 secondary outcomes
Change from baseline in ellipsoid zone (EZ) area as measured by SD-OCT
Time frame: 96 weeks
Change from baseline in BCVA using ETDRS
Time frame: 96 weeks
Change from baseline in LLVA using ETDRS
Time frame: 96 weeks
Change from baseline in retinal sensitivity based on macular microperimetry
Time frame: 96 weeks
Change from baseline in contrast sensitivity scores
Time frame: 96 weeks
Change from baseline using Patient Reported Outcome Questionnaires
Time frame: 96 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Sep 2025.
- SpliceBioLink provided by the sponsor.
- Individual participant dataSharing planned: No. Sponsor will wait until data fully analyzed and published before considering sharing
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
20 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Stargardt and Stargardt's Disease, run by Splice Bio at 20 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 19 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 20 sites in United States, United Kingdom, Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact SpliceBio (+34 934 02 04 56, clinicaltrials@splice.bio), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Document disease progression based on change from baseline in lesion size as measured by DDAF on FAF imaging (time frame: 96 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Sep 2025.