Global Patient Registry of Inherited Retinal Diseases
- Conditions
- Inherited Retinal Diseases
- Interventions
- Other: Standard of Care
- Registration Number
- NCT05957276
- Lead Sponsor
- Janssen Research & Development, LLC
- Brief Summary
The purpose of this study is to better understand the natural history of Inherited Retinal Disease (IRD) and help inform patient management.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 7000
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
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 & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Participants With Inherited Retinal Diseases (IRDs) Standard of Care 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.
- Primary Outcome Measures
Name Time Method Visual Acuity (VA) 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) 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 Outcome Measures
Name Time Method Association Between IRD Genotype and Visual Field Baseline up to 8 years Association between IRD genotype and visual field will be reported as incidence of visual field for given IRD genotype.
Hospital Anxiety and Depression Scale (HADS) Baseline up to 8 years 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.
Association Between IRD Genotype and Change in Visual Acuity Baseline up to 8 years Association between IRD genotype and change in visual acuity will be reported as change in visual acuity for given IRD genotype.
Association Between IRD Genotype and Change in Visual Field Baseline up to 8 years Association between IRD genotype and change in visual field will be reported as change in visual field for given IRD genotype.
IRD Variants and Subtypes Baseline up to 8 years Number and distribution of IRD variants and subtypes will be described.
Number of Participants With Various Signs and Symptoms Baseline Number of participants with various signs and symptoms (for example: amblyopia, blindness, corneal disease/dystrophy) will be reported.
Clinical Global Impression of Change (CGIC) First post-baseline visit up to 8 years 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.
Association Between Inherited Retinal Disease (IRD) Genotype and Visual Acuity Baseline up to 8 years Association between IRD genotype and visual acuity will be reported as incidence of visual acuity for given IRD genotype.
Family History and Inheritance Pattern Baseline up to 8 years Number and relationship with family members diagnosed with IRD will be described.
Demographic Characteristics of Participants: Age Baseline Demographic characteristics of participants (age) will be reported.
Demographic Characteristics of Participants: Sex Baseline Demographic characteristics of participants (sex) will be reported.
Demographic Characteristics of Participants: Race Baseline Demographic characteristics of participants (race) will be reported.
Number of Participants With Comorbidities Baseline Number of participants with comorbidities will be reported.
Number of Participants With Other Ocular Events Baseline up to 8 years 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.
Number and Type of Hospital/Clinic Visit After IRD Diagnosis Baseline up to 8 years Participant management after diagnosis including number and type of hospital/clinic visit will be described.
Clinician Global Impression of Severity (CGIS) Baseline up to 8 years 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.
Number and Type of Healthcare Professional Visits Prior to Confirmed IRD Diagnosis Baseline up to 8 years Participant diagnostic pathway prior to diagnosis including number and type of healthcare professional visits will be described.
Medical Resource Utilization Baseline up to 8 years Number and type of hospital/clinic visit, use of assistive device, supportive care, adaptation, and service will be described.
Participant Global Impression of Severity (PGIS) Baseline up to 8 years 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.
Participant Global Impression of Change (PGIC) First post-baseline visit up to 8 years 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.
Modified Low Luminance Questionnaire (mLLQ) Baseline up to 8 years 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.
Achromatopsia (ACHM) Vision Impact Questionnaire (AVIQ) Baseline up to 8 years 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.
Achromatopsia (ACHM) Symptom and Impact Diary Baseline up to 8 years 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.
Caregiver Burden Score Baseline up to 8 years 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.
Work Productivity and Activity Impairment (WPAI) Baseline up to 8 years 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.
Trial Locations
- Locations (71)
Kepler Universitatsklinikum GmbH
🇦🇹Linz, Austria
Hopitaux universitaires de Strasbourg
🇫🇷Srasbourg, France
Universitatsklinikum Bonn
🇩🇪Bonn, Germany
The Chaim Sheba Medical Center
🇮🇱Ramat Gan, Israel
ASST Santi Paolo e Carlo
🇮🇹Milano, Italy
Policlinico Universitario Agostino Gemelli
🇮🇹Roma, Italy
Hosp. Univ. de Bellvitge
🇪🇸Barcelona, Spain
Hosp. Sant Joan de Deu
🇪🇸Barcelona, Spain
Hosp. Univ. Donostia
🇪🇸Donostia-San Sebastián, Spain
Hosp Univ Fund Jimenez Diaz
🇪🇸Madrid, Spain
Hosp. Univ. 12 de Octubre
🇪🇸Madrid, Spain
Hosp. Virgen Macarena
🇪🇸Sevilla, Spain
On Oftalmologia LTDA
🇧🇷Pinheiros, Brazil
Clinica Oftalmologica Sao Lucas
🇧🇷Sao Paulo, Brazil
Instituto De Genetica Ocular
🇧🇷São Paulo, Brazil
University of Alabama Birmingham
🇺🇸Birmingham, Alabama, United States
University of Arkansas for Medical Sciences
🇺🇸Little Rock, Arkansas, United States
University of Southern California
🇺🇸Los Angeles, California, United States
UCSF
🇺🇸San Francisco, California, United States
Bascom Palmer Eye Institute
🇺🇸Miami, Florida, United States
Emory University
🇺🇸Atlanta, Georgia, United States
University of Iowa
🇺🇸Iowa City, Iowa, United States
Ochsner Medical Center
🇺🇸New Orleans, Louisiana, United States
John Hopkins Hospital
🇺🇸Baltimore, Maryland, United States
Univ of Michigan Medical Center
🇺🇸Ann Arbor, Michigan, United States
University Of Minnesota Medical Center
🇺🇸Minneapolis, Minnesota, United States
University of Rochester Medical Center
🇺🇸Rochester, New York, United States
Cleveland Clinic
🇺🇸Cleveland, Ohio, United States
Oregon Health And Science University
🇺🇸Portland, Oregon, United States
UPMC
🇺🇸Pittsburgh, Pennsylvania, United States
Retina Consultants of Texas
🇺🇸Bellaire, Texas, United States
Baylor College of Medicine
🇺🇸Houston, Texas, United States
University of Texas Houston
🇺🇸Houston, Texas, United States
Centre for Eye Research Australia
🇦🇺East Melbourne, Australia
Lions Eye Institute
🇦🇺Nedlands, Australia
Sydney Children's Hospital
🇦🇺Westmead, Australia
Medizinische Universitaet Wien
🇦🇹Vienna, Austria
Ghent University Hospital
🇧🇪Gent, Belgium
INRET ClÃnica e Centro de Pesquisa
🇧🇷Belo Horizonte, Brazil
Sunnybrook Health Sciences Center
🇨🇦Toronto, Ontario, Canada
Beijing Children's Hospital, Capital Medical University
🇨🇳Beijing, China
Beijing Tongren Hospital CMU
🇨🇳Beijing, China
Peking Union Medical College Hospital
🇨🇳Beijing, China
Sun YatSen University, Zhongshan Ophthalmic Center
🇨🇳Guangzhou, China
Eye and ENT Hospital of Fudan University
🇨🇳Shanghai, China
Shanghai General Hospital
🇨🇳Shanghai, China
Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
🇨🇳Shanghai, China
Shanghai Aier Eye Hospital
🇨🇳Shanghai, China
Rigshospitalet Glostrup
🇩🇰Glostrup, Denmark
Helsingin Yliopistollinen Keskussairaala
🇫🇮Helsinki, Finland
CHU Montpellier
🇫🇷Montpellier, France
CHU Nantes
🇫🇷Nantes, France
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
🇫🇷Paris, France
Hôpital Necker-Enfants Malades
🇫🇷Paris, France
Tel Aviv Sourasky Medical Center
🇮🇱Tel Aviv, Israel
Arcispedale S. Anna Ferrara
🇮🇹Ferrara, Italy
Azienda Ospedaliero Universitaria Careggi
🇮🇹Firenze, Italy
Ospedale San Raffaele
🇮🇹Milano, Italy
IRCCS Fondazione G.B. Bietti per lo Studio e la Ricerca in Oftalmologia ONLUS
🇮🇹Roma, Italy
National Hospital Organization Tokyo Medical Center
🇯🇵Meguro-ku, Japan
Seoul National University Bundang Hospital
🇰🇷Gyeonggi-do, Korea, Republic of
Severance Hospital
🇰🇷Seoul, Korea, Republic of
Samsung Medical Center
🇰🇷Seoul, Korea, Republic of
University Hospital Basel, Eye Clinic/Institute of Molecular and Clinical
🇨ðŸ‡Basel, Switzerland
Universite de Lausanne, Hopital ophtalmique Jules-Gonin
🇨ðŸ‡Lausanne, Switzerland
University Hospital Wales
🇬🇧Cardiff, United Kingdom
Hull University Teaching Hospitals NHS Trust
🇬🇧Hull, United Kingdom
Leeds Teaching Hospitals NHS Trust
🇬🇧Leeds, United Kingdom
Royal Liverpool University Hospital
🇬🇧Liverpool, United Kingdom
University Hospital Southampton NHS Foundation Trust
🇬🇧Southampton, United Kingdom
Sunderland Eye Infirmary
🇬🇧Sunderland, United Kingdom