Function and Imaging Assessments for G1961E-associated Stargardt Disease

Stargardt Disease Clinical Trial

— FIRSTORBIT  

Official title:

Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05674058
• Other study ID #: FIRSTORBIT
• Status: Recruiting
• Start date: November 1, 2022
• Est. completion date: October 31, 2025

Study information

• Verified date: December 2022
• Source: Institute of Molecular and Clinical Ophthalmology Basel
• Contact: Maximilian Pfau, MD
• Phone: +41 79 525 92 47
• Email: maximilian.pfau[@]usb.ch
• Is FDA regulated: No
• Study type: Observational

Clinical 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 40
• Est. completion date: October 31, 2025
• Est. primary completion date: October 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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)

Related Conditions & MeSH terms

• Macular Degeneration
• Stargardt Disease
• Stargardt Disease 1

Intervention

Other:
• No intervention
According to clinical practice.

Locations

Country	Name	City	State
Switzerland	University Hospital Basel	Basel	Basel-Stadt

Sponsors (1)

Lead Sponsor	Collaborator
Institute of Molecular and Clinical Ophthalmology Basel

Country where clinical trial is conducted

Switzerland, 

References & Publications (2)

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. — View Citation

Pfau 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Progression of photoreceptor outer and inner segment loss	Rate of change for the (square-root transformed) EZ loss area (in mm/yr)	Two years from Baseline