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Rate of Progression in USH2A-related Retinal Degeneration

Yalnız qeydiyyatdan keçmiş istifadəçilər məqalələri tərcümə edə bilərlər
Giriş / Qeydiyyatdan keçin
Bağlantı panoya saxlanılır
StatusAktiv, işə qəbul deyil
Sponsorlar
Jaeb Center for Health Research
Əməkdaşlar
Foundation Fighting Blindness

Açar sözlər

Mücərrəd

The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

Təsvir

This natural history study of patients with USH2A mutations will accelerate the development of outcome measures for clinical trials. Sensitive, objective outcome measures of retinal degeneration will greatly facilitate development of treatments for Usher syndrome patients. Together these approaches are expected to have an impact on understanding USH2A-related retinal degeneration, developing experimental treatment protocols, and assessing their effectiveness.

The goals and expected impact of this natural history study are to:

1. Report the natural history of retinal degeneration in patients with biallelic mutations in the USH2A gene

2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in USH2A-related retinal degeneration

3. Identify well-defined subpopulations for future clinical trials of investigative treatments for USH2A-related retinal degeneration

Study Objectives

The primary objectives of the natural history study are to:

1. Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the USH2A gene over 4 years, as measured using functional outcome measures (static perimetry, microperimetry, full-field stimulus threshold (FST), electroretinography (ERG), and visual acuity)

2. Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the USH2A gene over 4 years, as measured using structural outcome measures (spectral-domain optical coherence tomography (SD-OCT) ellipsoid zone (EZ) area)

3. Investigate structure-function relationships for insights into the mechanisms of retinal degeneration by relating changes in SD-OCT EZ area to visual field progression in individuals with biallelic pathogenic mutations in the USH2A gene

4. Assess for possible genotype, phenotype, and environmental risk factors with progression of the outcome measures at 4 years in individuals with biallelic pathogenic mutations in the USH2A gene

Some additional secondary objectives of this study include:

1. Characterize baseline cross-sectional retinal degeneration associated with biallelic pathogenic mutations in the USH2A gene (as measured using the main outcome measures)

2. Investigate comorbidities associated with disease (baseline cross-sectional) and disease progression (longitudinal natural history study) in individuals with biallelic pathogenic mutations in the USH2A gene

3. Explore patient reported outcome (PRO) measures associated with disease (baseline cross-sectional) and disease progression (longitudinal natural history study) in individuals with biallelic pathogenic mutations in the USH2A gene

4. Evaluate variability and symmetry of left and right eye kinetic perimetry and SD-OCT outcomes at baseline and at 4 years in individuals with biallelic pathogenic mutations in the USH2A gene

Tarixlər

Son Doğrulandı: 01/31/2020
İlk təqdim: 05/03/2017
Təxmini qeydiyyat təqdim edildi: 05/04/2017
İlk Göndərmə: 05/08/2017
Son Yeniləmə Göndərildi: 02/06/2020
Son Yeniləmə Göndərildi: 02/10/2020
Həqiqi Təhsilin Başlama Tarixi: 08/10/2017
Təxmini İlkin Tamamlanma Tarixi: 12/31/2022
Təxmini İşin Tamamlanma Tarixi: 12/31/2022

Vəziyyət və ya xəstəlik

Usher Syndrome, Type 2A
Retinitis Pigmentosa 39

Faza

-

Qol Qrupları

QolMüdaxilə / müalicə
Primary Cohort
Participants with baseline visual acuity ETDRS letter score of 54 or more [approximate Snellen equivalent 20/80 or better] and stable fixation and clinically determined [on Octopus 900 Pro] kinetic visual field III4e area 10° or more in the study eye ("primary cohort") will be enrolled into the longitudinal natural history study
Secondary Cohort
Participants with baseline visual acuity ETDRS letter score of 53 or less [approximate Snellen equivalent 20/100 or worse] or unstable fixation or clinically determined [on Octopus 900 Pro] kinetic visual field III4e area less than 10°in the study eye ("secondary cohort") will be enrolled in the cross-sectional baseline study

Uyğunluq Kriteriyaları

Təhsil üçün uyğun yaşlar 8 Years Üçün 8 Years
Təhsilə Uyğun CinslərAll
Nümunə götürmə metoduProbability Sample
Sağlam Könüllüləri qəbul edirBəli
Kriteriyalar

Inclusion Criteria:

- Willing and able to complete the informed consent process

- Ability to return for all study visits over 48 months if in the natural history study

- Age ≥ 8 years

- At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report

Ocular Inclusion Criteria

Both eyes must meet all of the following:

- Clinical diagnosis of a rod-cone degeneration

- Clear ocular media and adequate pupil dilation to permit good quality photographic imaging

- Ability to perform kinetic and static perimetry reliably

Exclusion Criteria:

- Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A

- Expected to enter experimental treatment trial at any time during this study

- History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine)

Ocular Exclusion Criteria

If either eye has any of the following, the patient is not eligible:

- Current vitreous hemorrhage

- Current or any history of rhegmatogenous retinal detachment

- Current or any history of (e.g., prior to cataract or refractive surgery) spherical equivalent of the refractive error worse than -8 Diopters of myopia

- History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months

- Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucoma visual field, nerve changes, or glaucoma filtering surgery)

- Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy

- Expected to have cataract removal surgery during the study

- History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function

- History of treatment for retinitis pigmentosa that could affect the progression of retinal degeneration (including participation in a clinical trial within the last year or a retained drug delivery device)

Nəticə

İlkin nəticə tədbirləri

1. Change in Visual Field Sensitivity [Baseline and every year until study completion (4 years)]

Measured by static perimetry with topographic analysis (Hill of Vision)

2. Change in Visual Acuity [Baseline and every year until study completion (4 years)]

Best corrected E-ETDRS visual acuity

3. Change in Mean Retinal Sensitivity [Baseline and every year until study completion (4 years)]

Measured by fundus-guided microperimetry

4. Change in EZ area [Baseline and every year until study completion (4 years)]

Measured by SD-OCT

5. Change in Rod- and cone-mediated retinal function [Baseline and every year until study completion (4 years)]

Measured by FST

6. Change in Retinal function [Baseline and after four years]

Full-field ERG amplitudes and timing in response to rod- and cone-specific stimuli

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