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Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)

Primary Purpose

Retinitis Pigmentosa

Status
Active
Phase
Not Applicable
Locations
International
Study Type
Interventional
Intervention
Ophthalmic examinations
Mobility Test
Sponsored by
SparingVision
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Retinitis Pigmentosa focused on measuring RHO, PDE6A, PDE6B, Pathogenic Mutation, Prospective, Natural History, Retinal Disease, Eye Disease, Blindness, Inherited Eye Disease, Vision Disorder, Inherited Retinal Disorder, Rod-Cone Dystrophy

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • RP with mutations affecting the RHO, PDE6A and PDE6B genes
  • Visual acuity ≥ 20/200 for at least one eye at inclusion visit
  • Binocular Visual field diameter ≥ 5° as measured on the Goldmann III-4e isopter at inclusion visit
  • Patients having signed the informed consent form
  • Sufficient knowledge of the local language to ensure understanding of the tasks to be performed and the instructions received
  • Patient affiliated to a Health Security System if they are included in a clinical site based in France (per law)

Exclusion Criteria:

  • Patients with any other gene mutation known to be involved in RP
  • Patients with other ocular disorder likely to impact the retinal function
  • Pregnant or breastfeeding women

Sites / Locations

  • UPMC Eye Center
  • CHNO XV-XX Paris - CIC 1423

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

Study Group 1

Study Group 2

Arm Description

Four years follow up of patients with ophthalmic examination.

Four years follow-up of patients with ophthalmic examination and mobility testing.

Outcomes

Primary Outcome Measures

Spectral Domain Optical Coherence tomography (SD-OCT)
Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Fundus Autofluorescence (FAF)
Progression of disease as measured by FAF (Hyperautofluorescent ring)

Secondary Outcome Measures

Visual acuity
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Visual field
Progression of disease over time as measured by kinetic and static visual fields
Full-field stimulus threshold (FST)
Progression of disease over time as measured by FST
Color vision
15 Hue Desaturated Lanthony
Dark adaptometry (DA)
Progression of disease over time as measured by DA

Full Information

First Posted
February 24, 2020
Last Updated
April 19, 2022
Sponsor
SparingVision
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1. Study Identification

Unique Protocol Identification Number
NCT04285398
Brief Title
Prospective Natural History Study of Retinitis Pigmentosa
Acronym
PHENOROD2
Official Title
Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations
Study Type
Interventional

2. Study Status

Record Verification Date
April 2022
Overall Recruitment Status
Active, not recruiting
Study Start Date
February 12, 2020 (Actual)
Primary Completion Date
June 30, 2026 (Anticipated)
Study Completion Date
June 30, 2026 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
SparingVision

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief Summary
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
Detailed Description
This is an open, longitudinal, prospective, multicentric study to describe the disease progression in patients with retinitis pigmentosa due to mutation in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6a (PDE6a) or phosphodiesterase 6b (PDE6b).RHO,PDE6A or PDE6B mutation.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Retinitis Pigmentosa
Keywords
RHO, PDE6A, PDE6B, Pathogenic Mutation, Prospective, Natural History, Retinal Disease, Eye Disease, Blindness, Inherited Eye Disease, Vision Disorder, Inherited Retinal Disorder, Rod-Cone Dystrophy

7. Study Design

Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
82 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Study Group 1
Arm Type
Other
Arm Description
Four years follow up of patients with ophthalmic examination.
Arm Title
Study Group 2
Arm Type
Other
Arm Description
Four years follow-up of patients with ophthalmic examination and mobility testing.
Intervention Type
Other
Intervention Name(s)
Ophthalmic examinations
Intervention Description
Slit-lamp examination, IntraOcular Pressure, Visual Acuity, Visual Field, Full-field Stimulus Threshold, Dark adaptometry, Color Vision testing, Optical Coherence Tomography, Fundus AutoFluorescence and Adaptive Optics imaging.
Intervention Type
Other
Intervention Name(s)
Mobility Test
Intervention Description
Functional test to evaluate mobility and postural condition of patients
Primary Outcome Measure Information:
Title
Spectral Domain Optical Coherence tomography (SD-OCT)
Description
Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Time Frame
1 year
Title
Fundus Autofluorescence (FAF)
Description
Progression of disease as measured by FAF (Hyperautofluorescent ring)
Time Frame
1 year
Secondary Outcome Measure Information:
Title
Visual acuity
Description
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Time Frame
1 year
Title
Visual field
Description
Progression of disease over time as measured by kinetic and static visual fields
Time Frame
1 year
Title
Full-field stimulus threshold (FST)
Description
Progression of disease over time as measured by FST
Time Frame
1 year
Title
Color vision
Description
15 Hue Desaturated Lanthony
Time Frame
1 year
Title
Dark adaptometry (DA)
Description
Progression of disease over time as measured by DA
Time Frame
1 year

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: RP with mutations affecting the RHO, PDE6A and PDE6B genes Visual acuity ≥ 20/200 for at least one eye at inclusion visit Binocular Visual field diameter ≥ 5° as measured on the Goldmann III-4e isopter at inclusion visit Patients having signed the informed consent form Sufficient knowledge of the local language to ensure understanding of the tasks to be performed and the instructions received Patient affiliated to a Health Security System if they are included in a clinical site based in France (per law) Exclusion Criteria: Patients with any other gene mutation known to be involved in RP Patients with other ocular disorder likely to impact the retinal function Pregnant or breastfeeding women
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Isabelle Audo, MD, PhD
Organizational Affiliation
CHNO XV-XX Paris - CIC 1423
Official's Role
Principal Investigator
Facility Information:
Facility Name
UPMC Eye Center
City
Pittsburgh
State/Province
Pennsylvania
ZIP/Postal Code
15213
Country
United States
Facility Name
CHNO XV-XX Paris - CIC 1423
City
Paris
ZIP/Postal Code
75012
Country
France

12. IPD Sharing Statement

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Prospective Natural History Study of Retinitis Pigmentosa

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