Retrospective Natural History Study of Retinitis Pigmentosa

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03975543

Acronym

PHENOROD1

Enrollment

113

Registered

2019-06-05

Start date

2018-10-01

Completion date

2021-09-30

Last updated

2021-08-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Retinitis Pigmentosa (RP)

Keywords

Retinitis Pigmentosa, RHO, PDE6A, PDE6B, Pathogenic mutation, Retrospective, Natural History, Retinal Disease, Eye Diseases, Blindness, Inherited Eye Diseases, Vision Disorders, Inherited Retinal Disorders, Rod-Cone Dystrophy

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

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.

Design outcomes

Primary

Measure	Time frame	Description
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)
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).
Fundus Autofluorescence (FAF)	2 years	Progression of disease as measured by FAF (Hyperautofluorescent ring)

Secondary

Measure	Time frame	Description
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
Electroretinogram (ERG)	baseline (At diagnosis)	Photopic and scotopic full field

Countries

France

Outcome results