Biomarkers for Prognosis in Different Forms of Retinitis Pigmentosa
Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
SUMMARY
The objective of this study is to discover biomarkers that demonstrate a correlation between the severity of retinitis pigmentosa (RP) and the thickness of the retinal pigment epithelium (RPE). These biomarkers will serve as prognostic indicators for various kinds of retinitis pigmentosa. The objective of this study is to find biomarkers that establish a correlation between the severity of retinitis pigmentosa and the thickness of the retinal pigment epithelium (RPE), which can serve as a prognostic indicator for Retinitis Pigmentosa.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:
• Patients who are able to read and sign informed consent
• Patients with Retinitis pigmentosa confirmed by genetic test.
• Patients older than or equal to 18 years of age
Locations
Other Locations
Italy
Maria Cristina Savastano
RECRUITING
Roma
Contact Information
Primary
Stanislao Rizzo, MD, Prof
stanislao.rizzo@policlinicogemelli.it
0630151
Backup
Valentina Cestrone
valentina.cestrone@guest.policlinicogemelli.it
3200609905
Time Frame
Start Date: 2024-02-01
Estimated Completion Date: 2025-04
Participants
Target number of participants: 35
Treatments
1. Patients with rhodopsin mutation (RHO)
Following a clinical diagnosis, patients undergo genetic testing. Patients with rhodopsin mutation (RHO) a mutation are categorised into subgroup 1.
2. Patients with pre-mRNA factor 8 (PRPF8) mutation
Following a clinical diagnosis, patients undergo genetic testing. Patients with pre-mRNA factor 8 (PRPF8) mutation are categorised into subgroup 2.
3.Patients a cone-specific phosphodiesterase, i.e. PDE6B, mutation
Following a clinical diagnosis, patients undergo genetic testing. Patients with a cone-specific phosphodiesterase, i.e. PDE6B, mutation are categorised into subgroup 3.
4. Patients with Chromosome 2-Open (C2orf71) mutation
Following a clinical diagnosis, patients undergo genetic testing. Patients with Chromosome 2-Open (C2orf71) mutation are categorised into subgroup 4.
5. Patients with Guanylate Cyclase (GUCY2D) mutation
Following a clinical diagnosis, patients undergo genetic testing. Patients with Guanylate Cyclase (GUCY2D) mutation are categorised into subgroup 5.
6. Patients with RP- specific nuclear receptor (Nr2E3) mutation
Following a clinical diagnosis, patients undergo genetic testing. Patients with RP- specific nuclear receptor (Nr2E3) mutation are categorised into subgroup 6.
Related Therapeutic Areas
Sponsors
Leads: Fondazione Policlinico Universitario Agostino Gemelli IRCCS