A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: microRNAs analysis.
- Who it may be relevant to
- Registry conditions: USH2A Variant Retinitis Pigmentosa. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
Aim of the study is to perform a non-invasive multimodal retinal imaging investigation in a cohort of patients affected by USH2A retinitis pigmentosa (USH2A-RP), in order to develop a new diagnostic paradigm to categorize clinically relevant subgroups. All the procedures will be performed according to normal clinical practice. In addition, a novel quantitative profiling of serum microRNAs will be carried out in order to analyze the clinical importance of microRNA biomarkers in the clinical setting of the disease.
Interventions
- Diagnostic test microRNAs analysis
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
Primary outcome measures
- Clinical relevance of microRNAs in USH2A-RP [Time frame: 6 months period following the last follow-up visit]
Secondary outcome measures (1)
- To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings [Time frame: 6 months period following the last follow-up visit]
Eligibility criteria
Inclusion criteria
- age >18 years
- genetically confirmed diagnosis of USH2A-RP
- availability of genetic tests to assess the pathogenic variants
Exclusion criteria
- inability to understand and sign the written informed consent form
- 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT06545253 · PNRR-MR1-2023-12378435