Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
35 participants
OBSERVATIONAL
2024-02-01
2025-04-30
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
A Prospective, Observational Study in Adults With Retinitis Pigmentosa (RP)
NCT06517940
Retinitis Pigmentosa Clinical Measures and Repeatability Testing of Potential Outcome Measures
NCT03845218
Multimodal Biomarkers in Prediction of Diabetic Retinopathy
NCT07098832
Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa
NCT06368375
Prospective Exploratory Cohort Study on Ganglion Cell Degeneration in Retinitis Pigmentosa Patients
NCT07056738
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Analysis of high-resolution images captured with an ultrawidefield system using a Zeiss Clarus device in order to determine the condition of the peripheral retina.Finally, Flicker Electroretinogram (fERG) performed on the central retina (macula), to assess the central macular function within an 18° field of view. This assessment involved measuring the response of the macula to a flickering stimulus with a frequency of 41 Hz, which is commonly done in routine clinical practice.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
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.
OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.
the best visual acuity will be evaluated using decimal tables and then converted to logMar.
Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%.
OCT will be essential to quantify the central macular thickness and the thickness of the RPE.
OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density.
Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution.
Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO).
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.
OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.
the best visual acuity will be evaluated using decimal tables and then converted to logMar.
Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%.
OCT will be essential to quantify the central macular thickness and the thickness of the RPE.
OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density.
Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution.
Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO).
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.
OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.
the best visual acuity will be evaluated using decimal tables and then converted to logMar.
Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%.
OCT will be essential to quantify the central macular thickness and the thickness of the RPE.
OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density.
Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution.
Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO).
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.
OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.
the best visual acuity will be evaluated using decimal tables and then converted to logMar.
Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%.
OCT will be essential to quantify the central macular thickness and the thickness of the RPE.
OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density.
Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution.
Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO).
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.
OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.
the best visual acuity will be evaluated using decimal tables and then converted to logMar.
Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%.
OCT will be essential to quantify the central macular thickness and the thickness of the RPE.
OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density.
Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution.
Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO).
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.
OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.
the best visual acuity will be evaluated using decimal tables and then converted to logMar.
Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%.
OCT will be essential to quantify the central macular thickness and the thickness of the RPE.
OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density.
Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution.
Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO).
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
OCT, OCT angiography, flicker ERG and Ultra Wide Field retinography and autofluorescence.
the best visual acuity will be evaluated using decimal tables and then converted to logMar.
Ocular fundus examination will be evaluated following pharmacological mydriasis with Tropicamide 1%.
OCT will be essential to quantify the central macular thickness and the thickness of the RPE.
OCT angiography is a non-invasive method to assess the presence or absence of neovascular membrane and macular flow density.
Color and ultra wide field autofluorescence images of the retina will be performed with Zeiss Clarus retinography to search for signs that identify different types of RP and predict their activity and evolution.
Electroretinogram flicker (ERG) is a common measure of cone pathway function that is used to study the normal visual system and that of patients with inherited and acquired retinal dysfunction Measurements will be performed using an electrophysiological recording system (CSO). Intermittent stimuli are presented using a Ganzfeld dome (CSO).
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Patients with Retinitis pigmentosa confirmed by genetic test.
* Patients older than or equal to 18 years of age
Exclusion Criteria
* Corneal surgery in the last 12 months
* Glaucoma with pressure above 25 mmHg in the last three months.
* Best Correct Visual Acuity below 1/10 in at least one eye.
18 Years
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
RIZZO STANISLAO
Professor
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Maria Cristina Savastano
Roma, , Italy
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
References
Explore related publications, articles, or registry entries linked to this study.
Campochiaro PA, Mir TA. The mechanism of cone cell death in Retinitis Pigmentosa. Prog Retin Eye Res. 2018 Jan;62:24-37. doi: 10.1016/j.preteyeres.2017.08.004. Epub 2017 Sep 27.
Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ. Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. Prog Retin Eye Res. 2018 Mar;63:107-131. doi: 10.1016/j.preteyeres.2017.10.004. Epub 2017 Oct 31.
Cross N, van Steen C, Zegaoui Y, Satherley A, Angelillo L. Retinitis Pigmentosa: Burden of Disease and Current Unmet Needs. Clin Ophthalmol. 2022 Jun 20;16:1993-2010. doi: 10.2147/OPTH.S365486. eCollection 2022.
Chaumet-Riffaud AE, Chaumet-Riffaud P, Cariou A, Devisme C, Audo I, Sahel JA, Mohand-Said S. Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults. Am J Ophthalmol. 2017 May;177:169-174. doi: 10.1016/j.ajo.2017.02.016. Epub 2017 Feb 22.
Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7.
Wu KY, Kulbay M, Toameh D, Xu AQ, Kalevar A, Tran SD. Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development. Pharmaceutics. 2023 Feb 17;15(2):685. doi: 10.3390/pharmaceutics15020685.
Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14.
Iftikhar M, Lemus M, Usmani B, Campochiaro PA, Sahel JA, Scholl HPN, Shah SMA. Classification of disease severity in retinitis pigmentosa. Br J Ophthalmol. 2019 Nov;103(11):1595-1599. doi: 10.1136/bjophthalmol-2018-313669. Epub 2019 Jan 31.
Savastano MC, Falsini B, Ferrara S, Scampoli A, Piccardi M, Savastano A, Rizzo S. Subretinal Pigment Epithelium Illumination Combined With Focal Electroretinogram and Visual Acuity for Early Diagnosis and Prognosis of Non-Exudative Age-Related Macular Degeneration: New Insights for Personalized Medicine. Transl Vis Sci Technol. 2022 Jan 3;11(1):35. doi: 10.1167/tvst.11.1.35.
Guymer RH, Rosenfeld PJ, Curcio CA, Holz FG, Staurenghi G, Freund KB, Schmitz-Valckenberg S, Sparrow J, Spaide RF, Tufail A, Chakravarthy U, Jaffe GJ, Csaky K, Sarraf D, Mones JM, Tadayoni R, Grunwald J, Bottoni F, Liakopoulos S, Pauleikhoff D, Pagliarini S, Chew EY, Viola F, Fleckenstein M, Blodi BA, Lim TH, Chong V, Lutty J, Bird AC, Sadda SR. Incomplete Retinal Pigment Epithelial and Outer Retinal Atrophy in Age-Related Macular Degeneration: Classification of Atrophy Meeting Report 4. Ophthalmology. 2020 Mar;127(3):394-409. doi: 10.1016/j.ophtha.2019.09.035. Epub 2019 Sep 30.
Placidi G, Maltese PE, Savastano MC, D'Agostino E, Cestrone V, Bertelli M, Chiurazzi P, Maceroni M, Minnella AM, Ziccardi L, Parisi V, Rizzo S, Falsini B. Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy. Diagnostics (Basel). 2023 Feb 23;13(5):850. doi: 10.3390/diagnostics13050850.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
6401
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.