Retrospective Natural History Study of Retinitis Pigmentosa

NCT ID: NCT03975543

Last Updated: 2021-08-04

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 113 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2018-10-01
• Study Completion Date: 2021-09-30

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 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.

Conditions

Retinitis Pigmentosa (RP)

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Eligibility Criteria

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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

SparingVision

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

CHNO XV-XX Paris - CIC 1423

Paris, , France

Countries

France

Other Identifiers

PHENOROD1

Identifier Type: -

Identifier Source: org_study_id