Stargardt DiseaseFIRSTORBITNCT05674058
Function and Imaging Assessments for G1961E-associated Stargardt Disease
An observational study of Stargardt Disease and Stargardt Disease 1, run by University Hospital, Basel, Switzerland at 1 site in Switzerland.
Trial summary
Some phenotypes of Stargardt disease are rather distinct. This includes the 'bull's eye maculopathy' phenotype associated with the frequent ABCA4 G1961E variant. In anticipation of a treatment trial, this natural history study aims to compare functional and structural outcome measures systematically. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Stargardt Disease, Stargardt Disease 1, Fundus Flavimaculatus
- How many people
- 20 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Nov 2022to 31 Oct 2025
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The study will include subjects with G1961E-associated Stargardt disease.
Who may be able to join
- Adult patients with G1961E-associated Stargardt disease
- Defined by (1.) the presence of two pathogenic ABCA4 variants with at least one ABCA4G1961E variant, (2.) a Stargardt disease phenotype, and (3.) the absence of pathogenic variants in PRPH2, PROM1, and ELOVL4
Who cannot join
- Inability to give informed consent
- Prior surgery (other than anti-VEGF injections, cataract surgery, YAG laser capsulotomy, or laser retinopexy) that - according to the investigator's judgment - may affect visual function assessments (e.g., retinal detachment surgery, glaucoma filtration surgery, or a history of a corneal transplant in the study-eye)
- Concurrent ophthalmic conditions in the study eye that (according to the investigator's judgment) may contribute to loss of vision such as clinically significant opacification of the ocular media (corneal dystrophies, cataract), other retinal diseases, or disease of the optic nerve head and visual pathway (including amblyopia)
- Major surgery planned or other events that (according to the investigator's judgment) could hinder follow-up examinations (e.g., knee replacement)
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
University Hospital Basel
Basel, Canton of Basel-City, CH-4031
About this study
Official title: Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials
Some phenotypes of Stargardt disease are rather distinct. This includes the 'bull's eye maculopathy' phenotype associated with the frequent ABCA4 G1961E variant. In anticipation of a treatment trial, this natural history study aims to compare functional and structural outcome measures systematically.
- Conditions
- Stargardt Disease, Stargardt Disease 1, Fundus Flavimaculatus, Macular Degeneration, Stargardt, Macular Dystrophy With Flecks, Type 1
- Being tested
- No intervention
- Keywords
- Stargardt Disease, STGD1, p.Gly1961Glu, G1961E, c.5882G>A
- Medical subject headings
- Stargardt Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
According to clinical practice.
What is being measured
The primary outcome is the main question the study is designed to answer.
Progression of photoreceptor outer and inner segment loss
Rate of change for the (square-root transformed) EZ loss area (in mm/yr)
Measured: Two years from Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jan 2023
- Study start1 Nov 2022
- Primary completion31 Oct 2025 (estimated)
- Study completion31 Oct 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Stargardt DiseaseStudies 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
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Basel, Switzerland
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05674058
- Sponsor's protocol ID
- FIRSTORBIT
- Acronym
- FIRSTORBIT
- Status last verified
- Apr 2025
- First submitted
- 21 Dec 2022
- Last updated
- 22 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Pfau M, Cukras CA, Huryn LA, Zein WM, Ullah E, Boyle MP, Turriff A, Chen MA, Hinduja AS, Siebel HE, Hufnagel RB, Jeffrey BG, Brooks BP. Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight. 2022 Jan 25;7(2):e155373. doi: 10.1172/jci.insight.155373.
PubMed 35076026Pfau M, Holz FG, Muller PL. Retinal light sensitivity as outcome measure in recessive Stargardt disease. Br J Ophthalmol. 2021 Feb;105(2):258-264. doi: 10.1136/bjophthalmol-2020-316201. Epub 2020 Apr 28.
PubMed 32345606Maximilian Pfau, Georg Ansari, Giacomo Calzetti, Lucas Janeschitz-Kriegl, Bence Gyorgy, Kristina Pfau, Helene Dollfus, Carlo Rivolta, Hendrik PN Scholl; Fully Automated Patient-Tailored Microperimetry: FirstOrbit-Study Report. Invest. Ophthalmol. Vis. Sci. 2024;65(7):5403.
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials
- ClinicalTrials.gov ID
- NCT05674058
- Acronym / sponsor ID
- FIRSTORBIT / FIRSTORBIT
- Conditions
- Stargardt Disease, Stargardt Disease 1, Fundus Flavimaculatus, Macular Degeneration, Stargardt, Macular Dystrophy With Flecks, Type 1
- Keywords
- Stargardt Disease, STGD1, p.Gly1961Glu, G1961E, c.5882G>A
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- University Hospital, Basel, SwitzerlandUniversity, hospital or other
- Study start
- 1 Nov 2022 (actual)
- Primary completion
- 31 Oct 2025 (estimated)
- Study completion
- 31 Oct 2025 (estimated)
- First posted
- 6 Jan 2023 (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.
Some phenotypes of Stargardt disease are rather distinct. This includes the 'bull's eye maculopathy' phenotype associated with the frequent ABCA4 G1961E variant. In anticipation of a treatment trial, this natural history study aims to compare functional and structural outcome measures systematically.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study will include subjects with G1961E-associated Stargardt disease.
Key inclusion criteria (2 listed)
- Adult patients with G1961E-associated Stargardt disease
- Defined by (1.) the presence of two pathogenic ABCA4 variants with at least one ABCA4G1961E variant, (2.) a Stargardt disease phenotype, and (3.) the absence of pathogenic variants in PRPH2, PROM1, and ELOVL4
Key exclusion criteria (4 listed)
- Inability to give informed consent
- Prior surgery (other than anti-VEGF injections, cataract surgery, YAG laser capsulotomy, or laser retinopexy) that - according to the investigator's judgment - may affect visual function assessments (e.g., retinal detachment surgery, glaucoma filtration surgery, or a history of a corneal transplant in the study-eye)
- Concurrent ophthalmic conditions in the study eye that (according to the investigator's judgment) may contribute to loss of vision such as clinically significant opacification of the ocular media (corneal dystrophies, cataract), other retinal diseases, or disease of the optic nerve head and visual pathway (including amblyopia)
- Major surgery planned or other events that (according to the investigator's judgment) could hinder follow-up examinations (e.g., knee replacement)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionAccording to clinical practice. | Other | – |
Primary outcome
Progression of photoreceptor outer and inner segment loss
Time frame: Two years from Baseline
Rate of change for the (square-root transformed) EZ loss area (in mm/yr)
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 22 Apr 2025.
- Background: PubMed 35076026Pfau M, Cukras CA, Huryn LA, Zein WM, Ullah E, Boyle MP, Turriff A, Chen MA, Hinduja AS, Siebel HE, Hufnagel RB, Jeffrey BG, Brooks BP. Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI Insight. 2022 Jan 25;7(2):e155373. doi: 10.1172/jci.insight.155373.
- Background: PubMed 32345606Pfau M, Holz FG, Muller PL. Retinal light sensitivity as outcome measure in recessive Stargardt disease. Br J Ophthalmol. 2021 Feb;105(2):258-264. doi: 10.1136/bjophthalmol-2020-316201. Epub 2020 Apr 28.
- Results publicationMaximilian Pfau, Georg Ansari, Giacomo Calzetti, Lucas Janeschitz-Kriegl, Bence Gyorgy, Kristina Pfau, Helene Dollfus, Carlo Rivolta, Hendrik PN Scholl; Fully Automated Patient-Tailored Microperimetry: FirstOrbit-Study Report. Invest. Ophthalmol. Vis. Sci. 2024;65(7):5403.
- Individual participant dataSharing planned: Undecided
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Stargardt Disease and Stargardt Disease 1, run by University Hospital, Basel, Switzerland at 1 site in Switzerland.
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 2 inclusion and 4 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: under way, not looking for participants, as of the sponsor's last update on 22 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Progression of photoreceptor outer and inner segment loss (time frame: Two years from Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05674058, which also lists 3 linked publications.
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 22 Apr 2025.