Clinical trial NCT05957276: Global Patient Registry of Inherited Retinal Diseases
Official title: Global Patient Registry of Inherited Retinal Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Inherited Retinal Diseases
Lead sponsor: Janssen Research & Development, LLC
Sponsor class: INDUSTRY
First posted: 2023-07-24
Enrollment: 7000
Sex: ALL
Minimum age (years): 3
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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


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)

Primary outcomes:
measure: Visual Acuity (VA)
timeFrame: Baseline up to 8 years
measure: Visual Field (VF)
timeFrame: Baseline up to 8 years
Secondary outcomes:
measure: Association Between Inherited Retinal Disease (IRD) Genotype and Visual Acuity
timeFrame: Baseline up to 8 years
measure: Association Between IRD Genotype and Visual Field
timeFrame: Baseline up to 8 years
measure: Association Between IRD Genotype and Change in Visual Acuity
timeFrame: Baseline up to 8 years
measure: Association Between IRD Genotype and Change in Visual Field
timeFrame: Baseline up to 8 years
measure: Family History and Inheritance Pattern
timeFrame: Baseline up to 8 years
measure: IRD Variants and Subtypes
timeFrame: Baseline up to 8 years
measure: Demographic Characteristics of Participants: Age
timeFrame: Baseline
measure: Demographic Characteristics of Participants: Sex
timeFrame: Baseline
measure: Demographic Characteristics of Participants: Race
timeFrame: Baseline
measure: Number of Participants With Comorbidities
timeFrame: Baseline
measure: Number of Participants With Various Signs and Symptoms
timeFrame: Baseline
measure: Number of Participants With Other Ocular Events
timeFrame: Baseline up to 8 years
measure: Number and Type of Healthcare Professional Visits Prior to Confirmed IRD Diagnosis
timeFrame: Baseline up to 8 years
measure: Number and Type of Hospital/Clinic Visit After IRD Diagnosis
timeFrame: Baseline up to 8 years
measure: Medical Resource Utilization
timeFrame: Baseline up to 8 years
measure: Clinician Global Impression of Severity (CGIS)
timeFrame: Baseline up to 8 years
measure: Clinical Global Impression of Change (CGIC)
timeFrame: First post-baseline visit up to 8 years
measure: Participant Global Impression of Severity (PGIS)
timeFrame: Baseline up to 8 years
measure: Participant Global Impression of Change (PGIC)
timeFrame: First post-baseline visit up to 8 years
measure: Modified Low Luminance Questionnaire (mLLQ)
timeFrame: Baseline up to 8 years
measure: Achromatopsia (ACHM) Vision Impact Questionnaire (AVIQ)
timeFrame: Baseline up to 8 years
measure: Achromatopsia (ACHM) Symptom and Impact Diary
timeFrame: Baseline up to 8 years
measure: Hospital Anxiety and Depression Scale (HADS)
timeFrame: Baseline up to 8 years
measure: Work Productivity and Activity Impairment (WPAI)
timeFrame: Baseline up to 8 years
measure: Caregiver Burden Score
timeFrame: Baseline up to 8 years
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama Birmingham
state: Alabama
city: Little Rock
country: United States
facility: University of Arkansas for Medical Sciences
state: Arkansas
city: Los Angeles
country: United States
facility: University of Southern California
state: California
city: San Francisco
country: United States
facility: UCSF
state: California
city: Miami
country: United States
facility: Bascom Palmer Eye Institute
state: Florida
city: Atlanta
country: United States
facility: Emory University
state: Georgia
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: New Orleans
country: United States
facility: Ochsner Medical Center
state: Louisiana
city: Baltimore
country: United States
facility: John Hopkins Hospital
state: Maryland
city: Ann Arbor
country: United States
facility: Univ of Michigan Medical Center
state: Michigan
city: Minneapolis
country: United States
facility: University Of Minnesota Medical Center
state: Minnesota
city: Rochester
country: United States
facility: University of Rochester Medical Center
state: New York
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Portland
country: United States
facility: Oregon Health And Science University
state: Oregon
city: Pittsburgh
country: United States
facility: UPMC
state: Pennsylvania
city: Bellaire
country: United States
facility: Retina Consultants of Texas
state: Texas
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Houston
country: United States
facility: University of Texas Houston
state: Texas
city: East Melbourne
country: Australia
facility: Centre for Eye Research Australia
city: Nedlands
country: Australia
facility: Lions Eye Institute
city: Westmead
country: Australia
facility: Sydney Children's Hospital
city: Linz
country: Austria
facility: Kepler Universitatsklinikum GmbH
city: Vienna
country: Austria
facility: Medizinische Universitaet Wien
city: Gent
country: Belgium
facility: Ghent University Hospital
city: Belo Horizonte
country: Brazil
facility: INRET Clínica e Centro de Pesquisa
city: Pinheiros
country: Brazil
facility: On Oftalmologia LTDA
city: Sao Paulo
country: Brazil
facility: Clinica Oftalmologica Sao Lucas
city: São Paulo
country: Brazil
facility: Instituto De Genetica Ocular
city: Toronto
country: Canada
facility: Sunnybrook Health Sciences Center
state: Ontario
city: Beijing
country: China
facility: Beijing Children's Hospital, Capital Medical University
city: Beijing
country: China
facility: Beijing Tongren Hospital CMU
city: Beijing
country: China
facility: Peking Union Medical College Hospital
city: Guangzhou
country: China
facility: Sun YatSen University, Zhongshan Ophthalmic Center
city: Shanghai
country: China
facility: Eye and ENT Hospital of Fudan University
city: Shanghai
country: China
facility: Shanghai General Hospital
city: Shanghai
country: China
facility: Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
city: Shanghai
country: China
facility: Shanghai Aier Eye Hospital
city: Glostrup
country: Denmark
facility: Rigshospitalet Glostrup
city: Helsinki
country: Finland
facility: Helsingin Yliopistollinen Keskussairaala
city: Montpellier
country: France
facility: CHU Montpellier
city: Nantes
country: France
facility: CHU Nantes
city: Paris
country: France
facility: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Srasbourg
country: France
facility: Hopitaux universitaires de Strasbourg
city: Bonn
country: Germany
facility: Universitatsklinikum Bonn
city: Ramat Gan
country: Israel
facility: The Chaim Sheba Medical Center
city: Tel Aviv
country: Israel
facility: Tel Aviv Sourasky Medical Center
city: Ferrara
country: Italy
facility: Arcispedale S. Anna Ferrara
city: Firenze
country: Italy
facility: Azienda Ospedaliero Universitaria Careggi
city: Milano
country: Italy
facility: Ospedale San Raffaele
city: Milano
country: Italy
facility: ASST Santi Paolo e Carlo
city: Roma
country: Italy
facility: Policlinico Universitario Agostino Gemelli
city: Roma
country: Italy
facility: IRCCS Fondazione G.B. Bietti per lo Studio e la Ricerca in Oftalmologia ONLUS
city: Meguro-ku
country: Japan
facility: National Hospital Organization Tokyo Medical Center
city: Gyeonggi-do
country: Korea, Republic of
facility: Seoul National University Bundang Hospital
city: Seoul
country: Korea, Republic of
facility: Severance Hospital
city: Seoul
country: Korea, Republic of
facility: Samsung Medical Center
city: Barcelona
country: Spain
facility: Hosp. Univ. de Bellvitge
city: Barcelona
country: Spain
facility: Hosp. Sant Joan de Deu
city: Donostia-San Sebastián
country: Spain
facility: Hosp. Univ. Donostia
city: Madrid
country: Spain
facility: Hosp Univ Fund Jimenez Diaz
city: Madrid
country: Spain
facility: Hosp. Univ. 12 de Octubre
city: Sevilla
country: Spain
facility: Hosp. Virgen Macarena
city: Basel
country: Switzerland
facility: University Hospital Basel, Eye Clinic/Institute of Molecular and Clinical
city: Lausanne
country: Switzerland
facility: Universite de Lausanne, Hopital ophtalmique Jules-Gonin
city: Cardiff
country: United Kingdom
facility: University Hospital Wales
city: Hull
country: United Kingdom
facility: Hull University Teaching Hospitals NHS Trust
city: Leeds
country: United Kingdom
facility: Leeds Teaching Hospitals NHS Trust
city: Liverpool
country: United Kingdom
facility: Royal Liverpool University Hospital
city: Southampton
country: United Kingdom
facility: University Hospital Southampton NHS Foundation Trust
city: Sunderland
country: United Kingdom
facility: Sunderland Eye Infirmary
Study officials:
affiliation: Janssen Research & Development, LLC
name: Janssen Research & Development, LLC Clinical Trial
role: STUDY_DIRECTOR
References: