Retrospective Natural History Study of Retinitis Pigmentosa

Retinitis Pigmentosa (RP) Clinical Trial

— PHENOROD1  

Official title:

Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03975543
• Other study ID #: PHENOROD1
• Status: Active, not recruiting
• Start date: October 1, 2018
• Est. completion date: September 30, 2021

Study information

• Verified date: August 2021
• Source: SparingVision
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 113
• Est. completion date: September 30, 2021
• Est. primary completion date: October 1, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Retinitis
• Retinitis Pigmentosa
• Retinitis Pigmentosa (RP)

Locations

Country	Name	City	State
France	CHNO XV-XX Paris - CIC 1423	Paris

Sponsors (1)

Lead Sponsor	Collaborator
SparingVision

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Visual acuity	Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction	2 years
Primary	Visual field	Progression of disease over time as measured by visual fields (kinetic and static)	2 years
Primary	Spectral Domain Optical Coherence tomography (SD-OCT)	Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).	2 years
Primary	Fundus Autofluorescence (FAF)	Progression of disease as measured by FAF (Hyperautofluorescent ring)	2 years
Secondary	Patients characteristics	Age, gender, medical and surgical history, family history and concomitant treatments	2 years
Secondary	Clinical diagnosis	Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis	baseline (At diagnosis)
Secondary	Genetic diagnosis	Mutated gene, identified pathogenic mutation	baseline (At diagnosis)
Secondary	Electroretinogram (ERG)	Photopic and scotopic full field	baseline (At diagnosis)
Secondary	Color vision	15 Hue Desaturated Lanthony	2 years