Retrospective Natural History Study of Retinitis Pigmentosa (PHENOROD1)

SparingVision

Status: Unknown

Conditions: Retinitis Pigmentosa (RP)

Study type: Observational

Funder types: Industry

Identifiers

NCT03975543

PHENOROD1

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 a retrospective, longitudinal, observational case history study to determine the natural history of rods and cones degeneration in patients diagnosed with RP caused by pathogenic mutations in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6A (PDE6A) or phosphodiesterase 6B (PDE6B).

113 participants will be enrolled in this study at the single center: CHNO-CIC Quinze-Vingt Paris in France.

Enrollment: 113 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes.

Exclusion criteria

• Patients with a pathogenic mutation in any other gene known to be involved in RP.
• Patients with any ocular disorder other than RP, likely to impact the retinal function.