Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05589714
Other study ID # Uni-Rare
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date May 11, 2023
Est. completion date December 15, 2026

Study information

Verified date May 2024
Source Jaeb Center for Health Research
Contact Coordinating Center
Phone 813-975-8690
Email ffb@jaeb.org
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

This is an international, multicenter study with two components: Registry - A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection - Enrollment is open to all genes on the RD Rare Gene List Natural History Study - A prospective, standardized, longitudinal Natural History Study - Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows. Registry Objectives 1. Genotype Characterization 2. Cross-Sectional Phenotype Characterization (within gene) 3. Establish a Link to My Retina Tracker Registry (MRTR) 4. Ancillary Exploratory Studies - Pooling of Genes Natural History Study Objectives 1. Natural History (within gene) 2. Structure-Function Relationship (within gene) 3. Risk Factors for Progression (within gene) 4. Ancillary Exploratory Studies - Pooling of Genes


Description:

This study includes multiple phases. 1. Screening Phase The patient's current genetic report will be reviewed. Genetic testing will not be performed in this study. A prior conclusive genetic test will be assessed for screening analysis. Having at least one gene on the RD Rare Gene List meets one of the eligible Genetic Screening Criteria and other eligibility criteria can be evaluated based on medical history. 2. Genetic Screening Phase: Genetic reports for participants enrolled into the genetic screening phase will be uploaded to study website for review and confirmation by Central Genetics Auditor (CGA) as meeting Genetic Screening Criteria.Participants confirmed as meeting those criteria will be considered enrolled into the Registry. 3. Registry Phase: The flow of participants who are enrolled into the Registry depends on whether their causal gene is designated as a Natural History Study (NHS) Target Gene. If they are not Designated as NHS Target Gene, they will receive annual phone calls up to 48 months from the Registry/Screening visit or until the gene is designated as NHS Target Gene. If they are Designated as NHS Target Gene participants will be considered pending enrollment into the NHS. The Registry will establish genetically and clinically well-characterized cohorts of patients across hundreds of genetic variants associated with retinal dystrophy (RD). Characterization of these patients will accelerate eligibility screening for the Natural History Study, provide cross-sectional data on phenotype-genotype associations, and contribute to our knowledge of pathogenicity of these rare disease-causing variants. 4. Natural History Study (NHS) Phase Participants pending enrollment will return to the clinic for the NHS Enrollment/Baseline Visit and return to the clinic for follow-up visits. The Natural History Study will accelerate the identification and development of sensitive, reliable outcome measures for clinical trials, which will facilitate development of treatments for retinal dystrophies due to disease-causing genetic variants. The expected impact of the Natural History Study is as follows: 1. Describe the natural history of retinal degeneration in patients with rare disease-causing genetic variants 2. Identify sensitive structural and functional outcome 3. Identify well-defined subpopulations for future clinical trials of investigative treatments for rare inherited retinal degeneration


Recruitment information / eligibility

Status Recruiting
Enrollment 1500
Est. completion date December 15, 2026
Est. primary completion date December 15, 2026
Accepts healthy volunteers No
Gender All
Age group 4 Years and older
Eligibility Inclusion Criteria: Participants must meet all the following inclusion criteria at the Registry/Screening Visit to be eligible to enroll into the genetic screening phase: 1. Willing to participate in the study and able to communicate consent during the consent process 2. Willing and able to complete all applicable Registry/Screening Visit assessments 3. Age = 4 years 4. Must have a single gene on the RD Rare Gene List which meets one of the Genetic Screening Criteria below based on a genetic report* from a clinically certified lab (or from a research lab which has been approved by the study Genetics Committee): Inheritance Pattern is Recessive and has at least 2 disease-causing variants which are homozygous or heterozygous in trans OR Inheritance Pattern is Recessive and has 2 disease-causing variants with unknown phase and meets all the following additional informatic criteria that is consistent with likely segregation in trans: 1. Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance 2. The 2 disease-causing variants have not been reported in cis in variant databases 3. No additional potentially pathogenic variants were found on the gene (and the sequencing data for the gene were sufficiently robust to detect any additional potentially pathogenic variants) 4. No potentially pathogenic variants were found in other common, likely candidate genes for the proposed condition OR Inheritance Pattern is Dominant, X-linked, or Mitochondrial and has at least 1 disease-causing variant Both eyes must meet the following criteria at the Registry/Screening Visit to enroll into the genetic screening phase: 1. Both eyes must have a clinical diagnosis of retinal dystrophy 2. Both eyes must permit good quality photographic imaging (e.g., but not limited to, clear ocular media, adequate pupil dilation, stable fixation) Exclusion Criteria: Participants must not meet any of the following exclusion criteria at the Registry/Screening Visit to be eligible to enroll into the genetic screening phase: 1. History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy including amiodarone, chloroquine, deferoxamine, hydroxychloroquine, pentosan polysulfate, tamoxifen, and deferoxamine Note: Since this is an observational study, pregnant women will not be specifically excluded from participation. However, minors that are pregnant shall be precluded from participation until they become the age of majority. Ocular Exclusion Criteria: If either eye has any of the following ocular exclusion criteria at the Registry/Screening Visit, then the participant is not eligible to enroll into the genetic screening phase: 1. Current vitreous hemorrhage 2. Current complications of pathological myopia (for example, but not limited to, myopic maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could inhibit ability to obtain good quality photographic imaging 3. History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening Visit 4. Current or any history of confirmed diagnosis of glaucoma (for example, but not limited to, glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery) 5. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy 6. History or current evidence of ocular disease that, in the opinion of the Investigator, may confound assessment of visual function (for example, but not limited to, tractional or rhegmatogenous retinal detachment, any vitreoretinal surgery, retinal vascular occlusion, proliferative diabetic retinopathy) 7. The following medications and treatments are prohibited as they can affect progression of retinitis pigmentosa (RP). The participant must not have received the following treatments: Any use of ocular stem cell or gene therapy Any treatment with ocriplasmin Treatment with Ozurdex (dexamethasone), Iluvien, or Yutiq (fluocinolone acetonide) intravitreal implant 8. The following medications and treatments are excluded within the specified timeframe: Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Registry/Screening Visit date) Treatment with any other product within five times the expected half-life of the product (time from last treatment date to Registry/Screening Visit date is at least 5 times the half-life of the given product)

Study Design


Locations

Country Name City State
Australia Centre for Eye Research Australia East Melbourne Victoria
Brazil INRET Clínica e Centro de Pesquisa Belo Horizonte Minas Gerais
Brazil Instituto de Genética Ocular São Paulo São Paulo Province
Canada University of Alberta and Alberta Health Services Edmonton Alberta
Canada University of Toronto, Hospital for Sick Children Toronto Ontario
Finland Helsinki University Hospital Helsinki
France CHNO des Quinze-Vingts Paris
Israel Hadassah-Hebrew University Medical Center Jerusalem
Mexico Retina and Genomics Institute Yucatan Merida
Netherlands Radboud University Medical Center Nijmegen
Switzerland University Hospital Basel Basel Basel-Stadt
United Kingdom Moorfields Eye Hospital London
United States University of Michigan, Kellogg Eye Center Ann Arbor Michigan
United States Emory University, Emory Eye Center Atlanta Georgia
United States Johns Hopkins University, Wilmer Eye Institute Baltimore Maryland
United States Harvard Univ., Massachusetts Eye and Ear Infirmary Boston Massachusetts
United States Retina Foundation of the Southwest Dallas Texas
United States Duke University, Duke Eye Center Durham North Carolina
United States Baylor College of Medicine, Alkek Eye Center Houston Texas
United States University of Florida Health Jacksonville Jacksonville Florida
United States Univ. of California San Diego, Jacobs Retina Center La Jolla California
United States University of Arkansas, Jones Eye Institute Little Rock Arkansas
United States University of Wisconsin Madison Madison Wisconsin
United States University of Miami, Bascom Palmer Eye Institute Miami Florida
United States Medical College of Wisconsin Eye Institute Milwaukee Wisconsin
United States Center for Advanced Retinal and Ocular Therapeutics Philadelphia Pennsylvania
United States Associated Retina Consultants Phoenix Arizona
United States UPMC Eye Center Pittsburgh Pennsylvania
United States Oregon Health & Science Univ., Casey Eye Institute Portland Oregon
United States Mayo Clinic Rochester Minnesota
United States University of Utah, John Moran Eye Center Salt Lake City Utah
United States University of California San Francisco San Francisco California

Sponsors (2)

Lead Sponsor Collaborator
Jaeb Center for Health Research Foundation Fighting Blindness

Countries where clinical trial is conducted

United States,  Australia,  Brazil,  Canada,  Finland,  France,  Israel,  Mexico,  Netherlands,  Switzerland,  United Kingdom, 

Outcome

Type Measure Description Time frame Safety issue
Primary Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV]) Measured by Static Perimetry (SP) using Octopus 900 Pro Baseline and every year until study completion (4 years)
Primary Functional Outcome: Characterize Change Using Early Treatment of Diabetic Retinopathy Study (ETDRS) / HOTV Best Corrected Visual Acuity (BCVA) letter score Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts Baseline and every year until study completion (4 years)
Primary Functional Outcome: Characterize Change Using Low visual acuity test - for participants unable to see ETDRS letters Measured by Berkeley Rudimentary Vision Test (BRVT) for Low Visual Acuity Baseline and every year until study completion (4 years)
Primary Functional Outcome: Characterize Change Using ETDRS/HOTV best corrected low luminance visual acuity letter score Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts Baseline and every year until study completion (4 years)
Primary Functional Outcome: Characterize Change in Mean retinal sensitivity Measured by Fundus guided Microperimetry (MP) using MAIA Baseline and every year until study completion (4 years)
Primary Functional Outcome: Characterize Change in Contrast sensitivity function Measured by Contrast sensitivity CSV-1000E chart Baseline and every year until study completion (4 years)
Primary Functional Outcome: Characterize Change in Retinal function using amplitudes and timing in response to rod- and cone-specific stimuli Measured by Full-field Electroretinogram (ffERG) Diagnosys Espion Baseline and at study completion (4 years)
Primary Functional Outcome: Characterize Change in Full-field retinal sensitivity Measured by Full-field stimulus threshold (FST) testing to blue, white, and red stimuli using Diagnosys Espion Baseline and every year until study completion (4 years)
Primary Functional Outcome: Characterize Change in Color vision function Measured by Color vision testing using Lanthony D15 Baseline and every year until study completion (4 years)
Primary Structural Outcome: Characterize Change in Ellipsoid zone (EZ) area; outer nuclear layer and ganglion cell layer thicknesses Measured by Spectral Domain Optical Coherence Tomography (SD-OCT) using Heidelberg Spectralis Baseline and every year until study completion (4 years)
Primary Structural Outcome: Characterize Change Using Qualitative and quantitative assessments of autofluorescence pattern Measured by Fundus Autofluorescence (FAF) using Optos Baseline and every year until study completion (4 years)
See also
  Status Clinical Trial Phase
Recruiting NCT01432847 - Cell Collection to Study Eye Diseases
Completed NCT04983914 - Retrospective NIS to Evaluate the Patient Benefit of TES
Recruiting NCT03845218 - Retinitis Pigmentosa Clinical Measures and Repeatability Testing of Potential Outcome Measures
Completed NCT00231010 - Molecular Genetics of Retinal Degenerations
Active, not recruiting NCT04611503 - PDE6A Gene Therapy for Retinitis Pigmentosa Phase 1/Phase 2
Completed NCT02909985 - Visual Activity Evoked by Infrared in Humans After Dark Adaptation N/A
Recruiting NCT01914913 - Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Phase 1/Phase 2
Completed NCT01949623 - Biomarkers In Retinitis Pigmentosa (BIRP) N/A
Completed NCT01835002 - Transcorneal Electrical Stimulation - Multicenter Safety Study N/A
Completed NCT00407602 - Argus® II Retinal Stimulation System Feasibility Protocol N/A
Completed NCT00515814 - Retina Implant Pilot Trial to Evaluate Safety & Efficacy in Blind Patients Having Degenerated Photo-receptors N/A
Completed NCT00100230 - DHA and X-Linked Retinitis Pigmentosa Phase 2
Active, not recruiting NCT00378742 - Repository for Inherited Eye Diseases
Terminated NCT05085964 - An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa Phase 2
Recruiting NCT05805007 - Safety and Tolerability Study of Gene Editing Drug ZVS203e in Participants With Retinitis Pigmentosa Early Phase 1
Recruiting NCT06291935 - Safety and Tolerability of Intravitreal Administration of VG901 in Patients With Retinitis Pigmentosa Due to Mutations in the CNGA1 Gene Phase 1
Recruiting NCT05909488 - Role of UC-MSC and CM to Inhibit Vision Loss in Retinitis Pigmentosa Phase I/II Phase 2/Phase 3
Recruiting NCT03078309 - The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients Early Phase 1
Completed NCT04238858 - Effects of Subtenon-injected Autologous Platelet-rich Plasma on Visual Functions in Eyes With Retinitis Pigmentosa N/A
Active, not recruiting NCT01680510 - The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Phase 1/Phase 2