Function and Imaging Assessments for G1961E-associated Stargardt Disease

NCT05674058 | Active Not Recruiting

• 1 other identifier: FIRSTORBIT
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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.

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

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

No intervention OTHER

According to clinical practice.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study will include subjects with G1961E-associated Stargardt disease.

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• University Hospital, Basel, Switzerland: lead

Study Sites (1)

University Hospital Basel

Basel, Canton of Basel-City, CH-4031, Switzerland

Location

Related Publications (3)

• 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.

  PMID: 35076026 BACKGROUND

• 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.

  PMID: 32345606 BACKGROUND

• Maximilian 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.

  RESULT

MeSH Terms

Conditions

Stargardt Disease

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Macular Degeneration; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 21, 2022
• First Posted: January 6, 2023
• Study Start: November 1, 2022
• Primary Completion: October 31, 2025
• Study Completion: October 31, 2025
• Last Updated: April 22, 2025

Record last verified: 2025-04

Locations

CH (1)