Global Patient Registry of Inherited Retinal Diseases

NCT ID: NCT05957276

Last Updated: 2025-11-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

892 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-08-31

Study Completion Date

2026-07-03

Brief Summary

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

Detailed Description

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Conditions

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Inherited Retinal Diseases

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Standard of Care

Intervention Type OTHER

Participants will not receive any intervention in this study. Participants will receive standard of care therapy.

Interventions

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Standard of Care

Participants will not receive any intervention in this study. Participants will receive standard of care therapy.

Intervention Type OTHER

Eligibility Criteria

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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)
Minimum Eligible Age

3 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Janssen Research & Development, LLC

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Janssen Research & Development, LLC Clinical Trial

Role: STUDY_DIRECTOR

Janssen Research & Development, LLC

Locations

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University of Alabama Birmingham

Birmingham, Alabama, United States

Site Status

University of Arkansas for Medical Sciences

Little Rock, Arkansas, United States

Site Status

University of Southern California

Los Angeles, California, United States

Site Status

UCSF

San Francisco, California, United States

Site Status

Bascom Palmer Eye Institute

Miami, Florida, United States

Site Status

Emory University

Atlanta, Georgia, United States

Site Status

University of Iowa

Iowa City, Iowa, United States

Site Status

Ochsner Medical Center

New Orleans, Louisiana, United States

Site Status

John Hopkins Hospital

Baltimore, Maryland, United States

Site Status

Univ of Michigan Medical Center

Ann Arbor, Michigan, United States

Site Status

University Of Minnesota Medical Center

Minneapolis, Minnesota, United States

Site Status

University of Rochester Medical Center

Rochester, New York, United States

Site Status

Cleveland Clinic

Cleveland, Ohio, United States

Site Status

Oregon Health And Science University

Portland, Oregon, United States

Site Status

UPMC

Pittsburgh, Pennsylvania, United States

Site Status

Retina Consultants of Texas

Bellaire, Texas, United States

Site Status

Baylor College of Medicine

Houston, Texas, United States

Site Status

University of Texas Houston

Houston, Texas, United States

Site Status

Centre for Eye Research Australia

East Melbourne, , Australia

Site Status

Lions Eye Institute

Nedlands, , Australia

Site Status

Sydney Children's Hospital

Westmead, , Australia

Site Status

Kepler Universitatsklinikum GmbH

Linz, , Austria

Site Status

Medizinische Universitaet Wien

Vienna, , Austria

Site Status

Ghent University Hospital

Ghent, , Belgium

Site Status

INRET Clínica e Centro de Pesquisa

Belo Horizonte, , Brazil

Site Status

On Oftalmologia LTDA

Pinheiros, , Brazil

Site Status

Clinica Oftalmologica Sao Lucas

São Paulo, , Brazil

Site Status

Instituto De Genetica Ocular

São Paulo, , Brazil

Site Status

Sunnybrook Health Sciences Center

Toronto, Ontario, Canada

Site Status

Beijing Children's Hospital, Capital Medical University

Beijing, , China

Site Status

Beijing Tongren Hospital CMU

Beijing, , China

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Peking Union Medical College Hospital

Beijing, , China

Site Status

Sun YatSen University, Zhongshan Ophthalmic Center

Guangzhou, , China

Site Status

Eye and ENT Hospital of Fudan University

Shanghai, , China

Site Status

Shanghai General Hospital

Shanghai, , China

Site Status

Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Shanghai, , China

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Shanghai Aier Eye Hospital

Shanghai, , China

Site Status

Rigshospitalet Glostrup

Glostrup Municipality, , Denmark

Site Status

Helsingin Yliopistollinen Keskussairaala

Helsinki, , Finland

Site Status

CHU Montpellier

Montpellier, , France

Site Status

CHU Nantes

Nantes, , France

Site Status

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Paris, , France

Site Status

Hôpital Necker-Enfants Malades

Paris, , France

Site Status

Hopitaux universitaires de Strasbourg

Srasbourg, , France

Site Status

Universitatsklinikum Bonn

Bonn, , Germany

Site Status

The Chaim Sheba Medical Center

Ramat Gan, , Israel

Site Status

Tel Aviv Sourasky Medical Center

Tel Aviv, , Israel

Site Status

Arcispedale S. Anna Ferrara

Ferrara, , Italy

Site Status

Azienda Ospedaliero Universitaria Careggi

Florence, , Italy

Site Status

Ospedale San Raffaele

Milan, , Italy

Site Status

ASST Santi Paolo e Carlo

Milan, , Italy

Site Status

Azienda Ospedaliera Univ.- Università Degli studi della Campania - Luigi Vanvitelli

Napoli, , Italy

Site Status

Policlinico Universitario Agostino Gemelli

Roma, , Italy

Site Status

IRCCS Fondazione G.B. Bietti per lo Studio e la Ricerca in Oftalmologia ONLUS

Roma, , Italy

Site Status

Kyushu University Hospital

Fukuoka, , Japan

Site Status

National Hospital Organization Tokyo Medical Center

Meguro-ku, , Japan

Site Status

Nagoya University Hospital

Nagoya, , Japan

Site Status

Mie University Hospital

Tsu, , Japan

Site Status

Seoul National University Bundang Hospital

Gyeonggi-do, , South Korea

Site Status

Severance Hospital

Seoul, , South Korea

Site Status

Samsung Medical Center

Seoul, , South Korea

Site Status

Hosp. Univ. de Bellvitge

Barcelona, , Spain

Site Status

Hosp. Sant Joan de Deu

Barcelona, , Spain

Site Status

Hosp. Univ. Donostia

Donostia / San Sebastian, , Spain

Site Status

Hosp Univ Fund Jimenez Diaz

Madrid, , Spain

Site Status

Hosp. Univ. 12 de Octubre

Madrid, , Spain

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Hosp. Virgen Macarena

Seville, , Spain

Site Status

University Hospital Basel, Eye Clinic/Institute of Molecular and Clinical

Basel, , Switzerland

Site Status

Universite de Lausanne, Hopital ophtalmique Jules-Gonin

Lausanne, , Switzerland

Site Status

University Hospital Wales

Cardiff, , United Kingdom

Site Status

Hull University Teaching Hospitals NHS Trust

Hull, , United Kingdom

Site Status

Leeds Teaching Hospitals NHS Trust

Leeds, , United Kingdom

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Royal Liverpool University Hospital

Liverpool, , United Kingdom

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University Hospital Southampton NHS Foundation Trust

Southampton, , United Kingdom

Site Status

Sunderland Eye Infirmary

Sunderland, , United Kingdom

Site Status

Countries

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United States Australia Austria Belgium Brazil Canada China Denmark Finland France Germany Israel Italy Japan South Korea Spain Switzerland United Kingdom

Other Identifiers

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NOPRODRPG0002

Identifier Type: OTHER

Identifier Source: secondary_id

CR109326

Identifier Type: -

Identifier Source: org_study_id