Retrospective Natural History Study of Retinitis Pigmentosa

• Conditions: Retinitis Pigmentosa (RP)

• Registration Number: NCT03975543
• Lead Sponsor: SparingVision

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.

Study Timeline

• Study Start: 2018-10-01
• Study First Submitted: 2019-06-04
• Study First Submitted QC: 2019-06-04
• Study First Posted: 2019-06-05
• Primary Completion: 2019-10-01
• Status Verified: 2021-08
• Last Update Submitted: 2021-08-03
• Last Update Posted: 2021-08-04
• Study Completion: 2021-09-30

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 113

Inclusion Criteria

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

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Fundus Autofluorescence (FAF)	2 years	Progression of disease as measured by FAF (Hyperautofluorescent ring)
Spectral Domain Optical Coherence tomography (SD-OCT)	2 years	Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Visual acuity	2 years	Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Visual field	2 years	Progression of disease over time as measured by visual fields (kinetic and static)

Secondary Outcome Measures

Name	Time	Method
Electroretinogram (ERG)	baseline (At diagnosis)	Photopic and scotopic full field
Patients characteristics	2 years	Age, gender, medical and surgical history, family history and concomitant treatments
Color vision	2 years	15 Hue Desaturated Lanthony
Clinical diagnosis	baseline (At diagnosis)	Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis
Genetic diagnosis	baseline (At diagnosis)	Mutated gene, identified pathogenic mutation

Trial Locations

Locations (1)

CHNO XV-XX Paris - CIC 1423; 🇫🇷 Paris, France