A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
NCT ID: NCT06545253
Last Updated: 2024-08-09
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
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NOT_YET_RECRUITING
60 participants
OBSERVATIONAL
2024-08-31
2027-02-28
Brief Summary
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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USH2A-RP
Patients affected by genetically-confirmed USH2A-RP.
microRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
controls
Healthy control subjects
microRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
Interventions
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microRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* genetically confirmed diagnosis of USH2A-RP
* availability of genetic tests to assess the pathogenic variants
Exclusion Criteria
* any inflammatory, infectious or degenerative eye disease
* media opacities resulting incompatible with good imaging quality
* uncontrolled systemic, metabolic, autoimmune neuroinflammatory and neurodegenerative disease
* ophthalmologic surgery within the previous six months
18 Years
ALL
Yes
Sponsors
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IRCCS Ospedale San Raffaele
OTHER
Responsible Party
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Maria Lucia Cascavilla
Co-Principal Investigator
Other Identifiers
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PNRR-MR1-2023-12378435
Identifier Type: -
Identifier Source: org_study_id
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