Prospective Natural History Study of Retinitis Pigmentosa

Retinitis Pigmentosa Clinical Trial

— PHENOROD2  

Official title:

Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04285398
• Other study ID #: PHENOROD2
• Status: Active, not recruiting
• Phase: N/A
• Start date: February 12, 2020
• Est. completion date: June 30, 2026

Study information

• Verified date: April 2022
• Source: SparingVision
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 82
• Est. completion date: June 30, 2026
• Est. primary completion date: June 30, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Retinitis
• Retinitis Pigmentosa

Intervention

Other:
• Ophthalmic examinations
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.
• Mobility Test
Functional test to evaluate mobility and postural condition of patients

Locations

Country	Name	City	State
France	CHNO XV-XX Paris - CIC 1423	Paris
United States	UPMC Eye Center	Pittsburgh	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
SparingVision

Countries where clinical trial is conducted

United States,  France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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).	1 year
Primary	Fundus Autofluorescence (FAF)	Progression of disease as measured by FAF (Hyperautofluorescent ring)	1 year
Secondary	Visual acuity	Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction	1 year
Secondary	Visual field	Progression of disease over time as measured by kinetic and static visual fields	1 year
Secondary	Full-field stimulus threshold (FST)	Progression of disease over time as measured by FST	1 year
Secondary	Color vision	15 Hue Desaturated Lanthony	1 year
Secondary	Dark adaptometry (DA)	Progression of disease over time as measured by DA	1 year