Global Patient Registry of Inherited Retinal Disease

Janssen Research & Development, LLC119 sites in 15 countries889 target enrollmentAugust 31, 2023

ConditionsInherited Retinal Diseases

InterventionsStandard of Care

Overview

Phase: Not Applicable
Intervention: Standard of Care
Conditions: Inherited Retinal Diseases
Sponsor: Janssen Research & Development, LLC
Enrollment: 889
Locations: 119
Primary Endpoint: Visual Acuity (VA)
Status: Active, not recruiting
Last Updated: 19 days ago

Overview Investigators Eligibility Criteria Arms & Interventions Outcomes Sites Similar Trials

Overview

Brief Summary

The purpose of this study is to better understand the natural history of Inherited Retinal Disease (IRD) and help inform patient management.

Registry

clinicaltrials.gov

Start Date

August 31, 2023

End Date

July 3, 2026

Last Updated

19 days ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Janssen Research & Development, LLC

Responsible Party

Sponsor

Eligibility Criteria

Inclusion Criteria

•For Participant Selection:
•Participant has any clinically documented sign(s) and/or symptom(s) consistent with an Inherited Retinal Disease (IRD), or asymptomatic with documented retinal changes detected by imaging or electrophysiology
•Participant has documented genetic variant(s) (known pathogenic, likely pathogenic, or variants of uncertain significance) in relevant genes for any of the following IRDs: X-Linked Retinitis Pigmentosa (XLRP) and/or Achromatopsia (ACHM)
•Participant or legally acceptable representative has provided informed consent (and participant assent, when applicable) in accordance with local requirements
•Participant is able to have relevant visual and/or retinal assessments performed
•For Caregiver Selection:
•Caregiver has consent from the associated participant to participate in the study, or participant assent and consent from their legally acceptable representative
•Male or female aged greater than or equal to (\>=)18 years
•Identified by an enrolled participant (or their legally acceptable representative\*) as a primary caregiver
•Caregiver has provided informed consent in accordance with local requirements

Exclusion Criteria

•For Participant Selection:
•\- Participant has received a treatment in an IRD-related interventional trial, or is being screened for an IRD-related interventional trial
•For Caregiver Selection:
•\- Caregiver has an IRD diagnosis and presents with symptoms (visual impairment)

Arms & Interventions

Participants With Inherited Retinal Diseases (IRDs)

Adult and pediatric (greater than or equal to \[\>=\] 3 years) participants with a documented genetic diagnosis of X-linked retinitis pigmentosa (XLRP) or Achromatopsia (ACHM) and any signs or symptoms of IRD or documented retinal changes detected by imaging or electrophysiology.

Intervention: Standard of Care

Outcomes

Primary Outcomes

Visual Acuity (VA)

Time Frame: Baseline up to 8 years

VA is a measure of the sharpness of vision. The test uses a chart with letters or symbols of different sizes, at a specific distance, and is reported using various scales, such as fraction, decimal, minimum angle of resolution (MAR), logMAR. When a participant is unable to read a chart, visual acuity can be measured by counting fingers, hand motion, or light perception.

Visual Field (VF)

Time Frame: Baseline up to 8 years

VF is used to determine scope of vision, including central and peripheral vision. It can determine place, size, and shape of scotoma in vision.

Secondary Outcomes

Association Between IRD Genotype and Visual Field(Baseline up to 8 years)
Hospital Anxiety and Depression Scale (HADS)(Baseline up to 8 years)
Association Between IRD Genotype and Change in Visual Acuity(Baseline up to 8 years)
Association Between IRD Genotype and Change in Visual Field(Baseline up to 8 years)
IRD Variants and Subtypes(Baseline up to 8 years)
Number of Participants With Various Signs and Symptoms(Baseline)
Clinical Global Impression of Change (CGIC)(First post-baseline visit up to 8 years)
Association Between Inherited Retinal Disease (IRD) Genotype and Visual Acuity(Baseline up to 8 years)
Family History and Inheritance Pattern(Baseline up to 8 years)
Demographic Characteristics of Participants: Age(Baseline)
Demographic Characteristics of Participants: Sex(Baseline)
Demographic Characteristics of Participants: Race(Baseline)
Number of Participants With Comorbidities(Baseline)
Number of Participants With Other Ocular Events(Baseline up to 8 years)
Number and Type of Hospital/Clinic Visit After IRD Diagnosis(Baseline up to 8 years)
Clinician Global Impression of Severity (CGIS)(Baseline up to 8 years)
Number and Type of Healthcare Professional Visits Prior to Confirmed IRD Diagnosis(Baseline up to 8 years)
Medical Resource Utilization(Baseline up to 8 years)
Participant Global Impression of Severity (PGIS)(Baseline up to 8 years)
Participant Global Impression of Change (PGIC)(First post-baseline visit up to 8 years)
Modified Low Luminance Questionnaire (mLLQ)(Baseline up to 8 years)
Achromatopsia (ACHM) Vision Impact Questionnaire (AVIQ)(Baseline up to 8 years)
Achromatopsia (ACHM) Symptom and Impact Diary(Baseline up to 8 years)
Caregiver Burden Score(Baseline up to 8 years)
Work Productivity and Activity Impairment (WPAI)(Baseline up to 8 years)