Informations générales (source: ClinicalTrials.gov)
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants (Uni-Rare)
Observational
Jaeb Center for Health Research (Voir sur ClinicalTrials)
mai 2023
décembre 2028
05 avril 2025
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
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| CHNO DES QUINZE-VINGTS PARIS | Isabelle Audo, MD | Contact (sur clinicalTrials) | |||
Critères
Tous
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)
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)
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)