Retrospective Natural History Study of Retinitis Pigmentosa
Palabras clave
Abstracto
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
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]
2. Visual field [2 years]
3. Spectral Domain Optical Coherence tomography (SD-OCT) [2 years]
4. Fundus Autofluorescence (FAF) [2 years]
Medidas de resultado secundarias
1. Patients characteristics [2 years]
2. Clinical diagnosis [baseline (At diagnosis)]
3. Genetic diagnosis [baseline (At diagnosis)]
4. Electroretinogram (ERG) [baseline (At diagnosis)]
5. Color vision [2 years]