Function and Imaging Assessments for G1961E-associated St... | NCT05674058

Studies
Function and Imaging Assessments for G1961E-associated Stargardt Disease

NCT05674058

Sponsor

University Hospital, Basel, Switzerland

Status

Active, not recruiting

Last Update Posted

Apr 22, 2025Actual

Enrollment

20Estimated

Phase

Not provided

Conditions

Stargardt Disease
Stargardt Disease 1
Fundus Flavimaculatus
Macular Degeneration, Stargardt
Macular Dystrophy With Flecks, Type 1

Interventions

No intervention

Countries

Switzerland

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2025

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 1, 2022Actual

Primary Completion Date

Oct 31, 2025Estimated

Completion Date

Oct 31, 2025Estimated

First Submitted Date

Dec 21, 2022

First Submission Date that Met QC Criteria

Dec 21, 2022

First Posted Date

Jan 6, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 17, 2025

Last Update Posted Date

Apr 22, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

20Estimated

Name	Type	Description	Arm Group Labels	Other Names
No intervention	Other	According to clinical practice.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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)

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Facility	Status	City	State	ZIP	Country	Contacts
University Hospital Basel		Basel	Canton of Basel-City	CH-4031	Switzerland

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
35076026	Background	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.
32345606	Background

ID	Term
D015785	Eye Diseases, Hereditary
D005128	Eye Diseases
D008268	Macular Degeneration
D012162	Retinal Degeneration