Global Patient Registry of Inherited Retinal Diseases (EYERD Registry)

Global Patient Registry of Inherited Retinal Disease

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

Study Overview

• Status: Active, not recruiting
• Conditions: Inherited Retinal Diseases
• Intervention / Treatment: Other: Standard of Care

• Study Type: Observational
• Enrollment (Actual): 889

Contacts and Locations

Study Locations

• Australia
  • East Melbourne, Australia, 3002
    • Centre for Eye Research Australia
  • Nedlands, Australia, 6009
    • Lions Eye Institute
  • Westmead, Australia, 2145
    • Sydney Children's Hospital
• Austria
  • Linz, Austria, 4021
    • Kepler Universitätsklinikum GmbH
  • Vienna, Austria, A-1090
    • Medizinische Universitaet Wien
• Belgium
  • Ghent, Belgium, 9000
    • Ghent University Hospital
• Brazil
  • Belo Horizonte, Brazil, 30150-270
    • INRET Clínica e Centro de Pesquisa
  • Pinheiros, Brazil, 05406-900
    • On Oftalmologia LTDA
  • São Paulo, Brazil, 04023-061
    • Instituto De Genetica Ocular
  • São Paulo, Brazil, 01427-002
    • Clinica Oftalmologica Sao Lucas
• Canada
  • Ontario
    • Toronto, Ontario, Canada, M4N 3M5
      • Sunnybrook Health Sciences Center
• China
  • Beijing, China, 100730
    • Peking Union Medical College Hospital
  • Beijing, China, 100045
    • Beijing Children's Hospital, Capital Medical University
  • Beijing, China, 100730
    • Beijing Tongren Hospital CMU
  • Guangzhou, China, 510060
    • Sun YatSen University, Zhongshan Ophthalmic Center
  • Shanghai, China, 200080
    • Shanghai General Hospital
  • Shanghai, China, 200092
    • Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
  • Shanghai, China, 200336
    • Shanghai Aier Eye Hospital
  • Shanghai, China, 200031
    • Eye and ENT Hospital of Fudan University 1
• Denmark
  • Glostrup Municipality, Denmark, 2600
    • Rigshospitalet Glostrup
• Finland
  • Helsinki, Finland, 00100
    • Helsingin Yliopistollinen Keskussairaala
• France
  • Montpellier, France, 34295
    • CHU Montpellier
  • Nantes, France, F44093
    • CHU Nantes
  • Paris, France, 75015
    • Hôpital Necker-Enfants Malades
  • Paris, France, 75012
    • Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
  • Srasbourg, France, 67091
    • Hôpitaux Universitaires de Strasbourg
• Germany
  • Bonn, Germany, 53127
    • Universitätsklinikum Bonn
• Israel
  • Ramat Gan, Israel, 52621
    • The Chaim Sheba Medical Center
  • Tel Aviv, Israel, 6423906
    • Tel Aviv Sourasky Medical Center
• Italy
  • Ferrara, Italy, 44124
    • Arcispedale S. Anna Ferrara
  • Florence, Italy, 50134
    • Azienda Ospedaliero Universitaria Careggi
  • Milan, Italy, 20132
    • Ospedale San Raffaele
  • Milan, Italy, 20142
    • Asst Santi Paolo E Carlo
  • Naples, Italy, 80131
    • Azienda Ospedaliera Univ.- Università Degli studi della Campania - Luigi Vanvitelli
  • Roma, Italy, 00168
    • Policlinico Universitario Agostino Gemelli
  • Roma, Italy, 00198
    • IRCCS Fondazione G.B. Bietti per lo Studio e la Ricerca in Oftalmologia ONLUS
• Japan
  • Fukuoka, Japan, 812-8582
    • Kyushu University Hospital
  • Meguro-ku, Japan, 152 8902
    • National Hospital Organization Tokyo Medical Center
  • Nagoya, Japan, 466-8560
    • Nagoya University Hospital
  • Tsu, Japan, 514 8507
    • Mie University Hospital
• South Korea
  • Gyeonggi-do, South Korea, 13620
    • Seoul National University Bundang Hospital
  • Seoul, South Korea, 06351
    • Samsung Medical Center
  • Seoul, South Korea, 03722
    • Severance Hospital
• Spain
  • Barcelona, Spain, 08907
    • Hosp. Univ. de Bellvitge
  • Barcelona, Spain, 08950
    • Hosp. Sant Joan de Deu
  • Donostia / San Sebastian, Spain, 20014
    • Hosp. Univ. Donostia
  • Madrid, Spain, 28041
    • Hosp. Univ. 12 de Octubre
  • Madrid, Spain, 28040
    • Hosp Univ Fund Jimenez Diaz
  • Seville, Spain, 41009
    • Hosp. Virgen Macarena
• Switzerland
  • Basel, Switzerland, 4031
    • University Hospital Basel, Eye Clinic/Institute of Molecular and Clinical
  • Lausanne, Switzerland, 1004
    • Universite de Lausanne, Hopital ophtalmique Jules-Gonin
• United Kingdom
  • Cardiff, United Kingdom, CF244LU
    • University Hospital Wales
  • Hull, United Kingdom, HU32JZ
    • Hull University Teaching Hospitals NHS Trust
  • Leeds, United Kingdom, LS9 7TF
    • Leeds Teaching Hospitals NHS Trust
  • Liverpool, United Kingdom, L7 8XP
    • Royal Liverpool University Hospital
  • Southampton, United Kingdom, SO166YD
    • University Hospital Southampton NHS Foundation Trust
  • Sunderland, United Kingdom, SR29HP
    • Sunderland Eye Infirmary
• United States
  • Alabama
    • Birmingham, Alabama, United States, 35294
      • University of Alabama Birmingham
  • Arkansas
    • Little Rock, Arkansas, United States, 72205
      • University of Arkansas for Medical Sciences
  • California
    • Los Angeles, California, United States, 90033
      • University of Southern California
    • San Francisco, California, United States, 94143
      • UCSF
  • Florida
    • Miami, Florida, United States, 33136
      • Bascom Palmer Eye Institute
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory University
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa
  • Louisiana
    • New Orleans, Louisiana, United States, 70121
      • Ochsner Medical Center
  • Maryland
    • Baltimore, Maryland, United States, 212051832
      • John Hopkins Hospital
  • Michigan
    • Ann Arbor, Michigan, United States, 48105
      • Univ of Michigan Medical Center
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • University of Minnesota Medical Center
  • New York
    • Rochester, New York, United States, 14642
      • University of Rochester Medical Center
  • Ohio
    • Cleveland, Ohio, United States, 44195
      • Cleveland Clinic
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health and Science University
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • UPMC
  • Texas
    • Bellaire, Texas, United States, 77401
      • Retina Consultants of Texas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine
    • Houston, Texas, United States, 77204
      • University of Texas Houston

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Study population includes adult and pediatric participants with a documented genetic diagnosis of XLRP or ACHM and any signs or symptoms of disease.

Description

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)

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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.	Other: Standard of Care; Participants will not receive any intervention in this study. Participants will receive standard of care therapy.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Visual Acuity (VA)	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.	Baseline up to 8 years
Visual Field (VF)	VF is used to determine scope of vision, including central and peripheral vision. It can determine place, size, and shape of scotoma in vision.	Baseline up to 8 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Association Between Inherited Retinal Disease (IRD) Genotype and Visual Acuity	Association between IRD genotype and visual acuity will be reported as incidence of visual acuity for given IRD genotype.	Baseline up to 8 years
Association Between IRD Genotype and Visual Field	Association between IRD genotype and visual field will be reported as incidence of visual field for given IRD genotype.	Baseline up to 8 years
Association Between IRD Genotype and Change in Visual Acuity	Association between IRD genotype and change in visual acuity will be reported as change in visual acuity for given IRD genotype.	Baseline up to 8 years
Association Between IRD Genotype and Change in Visual Field	Association between IRD genotype and change in visual field will be reported as change in visual field for given IRD genotype.	Baseline up to 8 years
Family History and Inheritance Pattern	Number and relationship with family members diagnosed with IRD will be described.	Baseline up to 8 years
IRD Variants and Subtypes	Number and distribution of IRD variants and subtypes will be described.	Baseline up to 8 years
Demographic Characteristics of Participants: Age	Demographic characteristics of participants (age) will be reported.	Baseline
Demographic Characteristics of Participants: Sex	Demographic characteristics of participants (sex) will be reported.	Baseline
Demographic Characteristics of Participants: Race	Demographic characteristics of participants (race) will be reported.	Baseline
Number of Participants With Comorbidities	Number of participants with comorbidities will be reported.	Baseline
Number of Participants With Various Signs and Symptoms	Number of participants with various signs and symptoms (for example: amblyopia, blindness, corneal disease/dystrophy) will be reported.	Baseline
Number of Participants With Other Ocular Events	Number of participants with other ocular events will be reported. Other ocular events of interest including cystoid macular edema, macular hole, epiretinal membrane formation, intraocular inflammation, cataracts, glaucoma, chorioretinal atrophy will be described.	Baseline up to 8 years
Number and Type of Healthcare Professional Visits Prior to Confirmed IRD Diagnosis	Participant diagnostic pathway prior to diagnosis including number and type of healthcare professional visits will be described.	Baseline up to 8 years
Number and Type of Hospital/Clinic Visit After IRD Diagnosis	Participant management after diagnosis including number and type of hospital/clinic visit will be described.	Baseline up to 8 years
Medical Resource Utilization	Number and type of hospital/clinic visit, use of assistive device, supportive care, adaptation, and service will be described.	Baseline up to 8 years
Clinician Global Impression of Severity (CGIS)	CGIS score will be reported for participants with X-linked retinitis pigmentosa (XLRP) and achromatopsia (ACHM) separately. CGIS is a generic, global, 5-point clinician-administered (observer-rated) scale that assesses illness severity. The score ranging from 1 (no symptoms) through 5 (very severe) to assess disease severity. A higher score indicates more severe disease.	Baseline up to 8 years
Clinical Global Impression of Change (CGIC)	CGIC score will be reported for XLRP participants. CGIC is a global, generic, 7-point clinician-administered (observer-rated) scale that assesses change in illness severity. The score ranging from 1 (very much improved) through 7 (very much worse). A higher score indicates worsening of disease.	First post-baseline visit up to 8 years
Participant Global Impression of Severity (PGIS)	The PGIS is a 5-point scale to assess disease severity, for participants with XLRP and ACHM separately. The XLRP PGIS measures participant reported disease severity and impact of XLRP on daily activities, items include: daily activities, mobility, mobility under low luminance/at night, and global rating of severity. A higher score indicates more severe disease. The ACHM PGIS measures participant reported disease severity and impact of ACHM on daily activities, items include: photo aversion (indoors and outdoors), impact on daily activities, and global rating of severity. A higher score indicates more severe disease.	Baseline up to 8 years
Participant Global Impression of Change (PGIC)	PGIC is a 5-point scale to assess the patient-reported change in disease severity. The XLRP PGIC assesses participant reported perceived change in disease severity and impact of XLRP on daily activities, items include: daily activities, mobility, mobility under low luminance/at night, and global rating of change in severity. A higher score indicates worsening of disease.	First post-baseline visit up to 8 years
Modified Low Luminance Questionnaire (mLLQ)	The mLLQ is a modified version of the original low luminance questionnaire developed for use in eye diseases to assess self-reported task difficulty under low luminance and at night. The mLLQ uses 5-point or 6-point Likert scales, consists of 6 domains: driving, extreme lighting, mobility, emotional distress, general dim lighting, and peripheral vision. There are 3 age versions: the adult (greater than or equal to [>=] 18 years) version includes 30 items, the adolescent (12-17 years) version includes 22 items, and the caregiver (3-11 years) version includes 19 items. Each domain has a score range of 0-100, with higher scores reflecting a higher level of functioning. Scores will be described per age class separately only for participants with XLRP.	Baseline up to 8 years
Achromatopsia (ACHM) Vision Impact Questionnaire (AVIQ)	The AVIQ was developed to assess the impact of ACHM on functional vision in children and adults. The AVIQ uses 5-point or 6-point Likert scales. There are 3 age versions: the adult/adolescent (>= 12 years) version includes 15 items, the child (8-11 years) version includes 8 items, and the caregiver (5-7 years) version includes 5 items. Scores will be described per age class separately.	Baseline up to 8 years
Achromatopsia (ACHM) Symptom and Impact Diary	The ACHM symptom and impact diary assesses the severity of key symptoms of photosensitivity and impaired visual acuity, contrast sensitivity, and color vision. There are 3 age versions: the adult/adolescent (>=12 years) version includes 9 items, the child (8-11 years) version includes 9 items, and the caregiver (5-7 years) version includes 16 items. Scores will be described per age class separately.	Baseline up to 8 years
Hospital Anxiety and Depression Scale (HADS)	The HADS is a 14-item questionnaire to assess the presence of anxiety and depression in individuals aged 16-65 years, using 4-point Likert scales. Summary scores are reported for the 2 domains. Each domain has a score range of 0-21, with higher scores reflecting increased anxiety or depression.	Baseline up to 8 years
Work Productivity and Activity Impairment (WPAI)	The WPAI is a 6-item questionnaire that measures the effects of IRD symptoms on work productivity and absenteeism and activity impairment outside of work, using dichotomous (Yes/No) and 0-10 numerical rating scale. The productivity loss would be the total work impairment; the sum of absenteeism and presenteeism. Scores are expressed as impairment percentages, with higher scores reflecting more impairment. This questionnaire will be answered by both study participants and caregiver participants.	Baseline up to 8 years
Caregiver Burden Score	The caregiver burden score is a 14-item questionnaire developed to assess the impact of IRDs on caregivers of children (ages 3-17 years) with an IRD diagnosis, using 4-point or 6-point Likert scales. It measures caregiver burden in terms of perception of their physical and emotional health, relationships, social life, work, and finances. This questionnaire applies to caregivers of minors only.	Baseline up to 8 years

Collaborators and Investigators

• Sponsor: Janssen Research & Development, LLC
• Investigators: Study Director: Janssen Research & Development, LLC Clinical Trial, Janssen Research & Development, LLC

Study record dates

Study Major Dates

• Study Start (Actual): August 31, 2023
• Primary Completion (Estimated): July 3, 2026
• Study Completion (Estimated): July 3, 2026

Study Registration Dates

• First Submitted: June 29, 2023
• First Submitted That Met QC Criteria: July 21, 2023
• First Posted (Actual): July 24, 2023

Study Record Updates

• Last Update Posted (Actual): May 8, 2026
• Last Update Submitted That Met QC Criteria: May 7, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Eye Diseases; Retinal Diseases; Health Services Administration; Health Care Quality, Access, and Evaluation; Quality of Health Care; Quality Indicators, Health Care; Standard of Care
• Other Study ID Numbers: CR109326; NOPRODRPG0002 (Other Identifier: Janssen Research & Development, LLC)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated device product: No