USH2A Variant Retinitis PigmentosaNCT06545253
A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
An observational study of USH2A Variant Retinitis Pigmentosa, run by IRCCS Ospedale San Raffaele.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- USH2A Variant Retinitis Pigmentosa
- What is being tested?
- microRNAs analysis
- How many people
- 60 participants
- Where
- No sites listed yet
- Study dates
- Aug 2024to Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: * 60 patients affected by genetically-confirmed USH2A-RP, both males and females, age >18 years * 10 healthy age- and gender- matched control subjects recruited among healthy patients undergoing general ophthalmological examinations in the outpatient departments
Who may be able to join
- age >18 years
- genetically confirmed diagnosis of USH2A-RP
- availability of genetic tests to assess the pathogenic variants
Who cannot join
- 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
About this study
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.
- Conditions
- USH2A Variant Retinitis Pigmentosa
- Being tested
- microRNAs analysis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
microRNAs analysisDiagnostic test
Also called multimodal retinal imaging
Patients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling
| Study group | Role | What they receive |
|---|---|---|
| USH2A-RP | Patients affected by genetically-confirmed USH2A-RP. Receives: Diagnostic Test: microRNAs analysis | |
| controls | Healthy control subjects Receives: Diagnostic Test: microRNAs analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical relevance of microRNAs in USH2A-RP
For all patients enrolled, at baseline, peripheral blood sampling will be collected.
Measured: 6 months period following the last follow-up visit
Secondary outcomes (1)
To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings
At baseline and month 12 follow-up visit, all enrolled patients with a genetically confirmed diagnosis of USH2A-RP, will undergo the following procedures:
- complete ophthalmic examination, including best corrected visual acuity measurement using standard ETDRS charts, intraocular pressure, slit-lamp biomicroscopy of the anterior and posterior segment;
- multimodal retinal imaging including: Ultrawide field imaging either with Optos devices; Blue-light fundus autofluorescence (FAF); Infrared imaging (IR); Multicolor imaging with Spectralis SD-OCT; Optical coherence tomography (OCT) with Spectralis SD-OCT; Optical coherence tomography angiography (OCTA) of the macula; visual field with standard 30.2 test pattern by Humphrey field analyzer.
Measured: 6 months period following the last follow-up visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2024
- Study startAug 2024 (estimated)
- Primary completionFeb 2025 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for USH2A Variant Retinitis PigmentosaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Ospedale San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Maria Lucia Cascavilla, IRCCS Ospedale San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06545253
- Sponsor's protocol ID
- PNRR-MR1-2023-12378435
- Status last verified
- Aug 2024
- First submitted
- 14 Jul 2024
- Last updated
- 9 Aug 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
- ClinicalTrials.gov ID
- NCT06545253
- Acronym / sponsor ID
- PNRR-MR1-2023-12378435
- Conditions
- USH2A Variant Retinitis Pigmentosa
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- IRCCS Ospedale San RaffaeleUniversity, hospital or other
- Study start
- Aug 2024 (estimated)
- Primary completion
- Feb 2025 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 9 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| USH2A-RP | – | Diagnostic Test: microRNAs analysisPatients affected by genetically-confirmed USH2A-RP. |
| controls | – | Diagnostic Test: microRNAs analysisHealthy control subjects |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- * 60 patients affected by genetically-confirmed USH2A-RP, both males and females, age >18 years * 10 healthy age- and gender- matched control subjects recruited among healthy patients undergoing general ophthalmological examinations in the outpatient departments
Key inclusion criteria (3 listed)
- age >18 years
- genetically confirmed diagnosis of USH2A-RP
- availability of genetic tests to assess the pathogenic variants
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| microRNAs analysisAlso: multimodal retinal imagingPatients will undergo routinary ophthalmological examination, multimodal retinal imaging and blood sampling | Diagnostic test | USH2A-RP, controls |
Primary outcome
Clinical relevance of microRNAs in USH2A-RP
Time frame: 6 months period following the last follow-up visit
For all patients enrolled, at baseline, peripheral blood sampling will be collected.
1 secondary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Aug 2024.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of USH2A Variant Retinitis Pigmentosa, run by IRCCS Ospedale San Raffaele.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 9 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical relevance of microRNAs in USH2A-RP (time frame: 6 months period following the last follow-up visit). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Aug 2024.