Clinical trial NCT05674058: Function and Imaging Assessments for G1961E-associated Stargardt Disease
Official title: Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
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
Lead sponsor: University Hospital, Basel, Switzerland
Sponsor class: OTHER
First posted: 2023-01-06
Enrollment: 20
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study will include subjects with G1961E-associated Stargardt disease.

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.


Eligibility criteria: 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)

Primary outcomes:
measure: Progression of photoreceptor outer and inner segment loss
timeFrame: Two years from Baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Basel
country: Switzerland
facility: University Hospital Basel
state: Basel-Stadt
Study officials:
References:
citation: 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.
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.
citation: 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.