NCT04285398

Prospective Natural History Study of Retinitis Pigmentosa

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

• Status: Active Not Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 82 (actual)
• Sponsor: SparingVision · Industry
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Retinitis Pigmentosa

Interventions

Type	Name	Description
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.
OTHER	Mobility Test	Functional test to evaluate mobility and postural condition of patients

Timeline

• Start date: 2020-02-12
• Primary completion: 2026-06-30
• Completion: 2026-06-30
• First posted: 2020-02-26
• Last updated: 2025-05-22

Locations

2 sites across 2 countries: United States, France