Retrospective Natural History Study of Retinitis Pigmentosa

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EstadoActivo, no reclutando

Patrocinadores

SparingVision

ENSAYO CLÍNICO: NCT03975543

BioSeek: NCT03975543

Palabras clave

Abstracto

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.

Descripción

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.

fechas

Verificado por última vez:	06/30/2019
Primero enviado:	06/03/2019
Inscripción estimada enviada:	06/03/2019
Publicado por primera vez:	06/04/2019
Última actualización enviada:	07/09/2019
Última actualización publicada:	07/10/2019
Fecha de inicio real del estudio:	09/30/2018
Fecha estimada de finalización primaria:	07/30/2019
Fecha estimada de finalización del estudio:	08/30/2019

Condición o enfermedad

Retinitis Pigmentosa (RP)

Fase

Criterio de elegibilidad

Sexos elegibles para estudiar	All
Método de muestreo	Non-Probability Sample
Acepta voluntarios saludables	si
Criterios	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.

Salir

Medidas de resultado primarias

1. Visual acuity [2 years]

Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction

2. Visual field [2 years]

Progression of disease over time as measured by visual fields (kinetic and static)

3. 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).

4. Fundus Autofluorescence (FAF) [2 years]

Progression of disease as measured by FAF (Hyperautofluorescent ring)

Medidas de resultado secundarias

1. Patients characteristics [2 years]

Age, gender, medical and surgical history, family history and concomitant treatments

2. Clinical diagnosis [baseline (At diagnosis)]

Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis

3. Genetic diagnosis [baseline (At diagnosis)]

Mutated gene, identified pathogenic mutation

4. Electroretinogram (ERG) [baseline (At diagnosis)]

Photopic and scotopic full field

5. Color vision [2 years]

15 Hue Desaturated Lanthony

Retrospective Natural History Study of Retinitis Pigmentosa

Palabras clave

phosphodiesterase

atrofia

retinitis

retinosis pigmentaria