Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)

SparingVision

Status: Active, not recruiting

Conditions: Retinitis Pigmentosa

Treatments: Other: Ophthalmic examinations; Other: Mobility Test

Study type: Interventional

Funder types: Industry

Identifiers

NCT04285398

PHENOROD2

Details and patient eligibility

About

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.

Full 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.

Enrollment: 82 patients

Sex: All

Ages: 18+ years old

Volunteers: No 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

Trial design

Primary purpose: Screening

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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82 participants in 2 patient groups

Study Group 1

Other group

Description:

Four years follow up of patients with ophthalmic examination.

Treatment:

Other: Ophthalmic examinations

Study Group 2

Other group

Description:

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

Treatment:

Other: Mobility Test

Other: Ophthalmic examinations