Inherited Retinal DystrophyNCT05793515
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
An observational study of Inherited Retinal Dystrophy and Retinitis Pigmentosa, run by Istituto Superiore di Sanità at 1 site in Italy.
Trial summary
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness. Characterizing the genetic bases of IRDs will help to understand the pathogenesis underlying the development of retinal damage. Read more about this study
- Who is it for?
- Ages 5 to 80 years
- Conditions the study is for
- Inherited Retinal Dystrophy, Retinitis Pigmentosa, Macular Dystrophy
- What is being tested?
- whole genome sequencing
- How many people
- 120 participants
- Where
- 1 siteItaly
- Study dates
- 15 Nov 2022to 2 Nov 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
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 5 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Male and female patients, aged between 5 and 80 years, suffering from retinal or optic nerve degeneration of a hereditary nature. Patients will be recruited at the IRCSS Fondazione Bietti in Rome and undergo ophthalmological examinations and instrumental tests. Candidate subjects are a clinically well-characterized cohort of patients with ocular dystrophies, including IRDs already clinically followed for at least 12 months and without a conclusive molecular diagnosis.
Who may be able to join
- Patients with retinal and optic nerve dystrophy of suspected hereditary nature.
- Probands with clinical follow-up of at least 12 months.
- Patients with an inconclusive molecular diagnosis by means of molecular-genetic tests for the genes known to date for the diagnosed pathology.
Who cannot join
- Patients with a clinical diagnosis of no proven genetic origin.
- Patients whose parents' or second degree relatives' samples are not available.
- Patients who refuse to be informed of the genetic results obtained, including incidental clinically relevant, validated and actionable for the patient himself and/or his family.
Trial locations and contacts
1 site in 1 country.
Italy1 site
Istituto Superiore di Sanità-Dpt. Oncology and Molecular Medicine
Rome, Italy, 00161
About this study
Official title: "Understanding Genetic Missing Variability and Pathogenetic Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models"
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness. Characterizing the genetic bases of IRDs will help to understand the pathogenesis underlying the development of retinal damage. Despite the advances in molecular identification of genes causing disease, unsolved IRDs constitute about 40% of all cases.
Goal of this study is to solve missing heritability in IRD using whole genome sequencing (WGS) to identify the genetic causes in clinically well-characterized patients without a molecular diagnosis.
The identification of novel genes that have a role in the development or maintenance of retinal function will lead to the development of new therapeutic approaches and will favour a more prompt diagnosis and improvement of patient management.
Read the detailed description
IRDs are rare neurodegenerative and genetically heterogeneous conditions with a wide spectrum of presentations, even among affected members of the same family. These disorders exhibit a large range of phenotypes with significant overlap, that can be broadly divided into three main groups: those principally affecting the periphery such as retinitis pigmentosa (RP) and choroideremia; those primarily involving the macula, known as 'macular' or 'central' dystrophies; and those affecting both the centre and periphery as seen in cone-rod or rod-cone dystrophies. Collectively, IRDs have an incidence of 1:2000, impacting approx. 2 million people worldwide and patients are progressively visually impaired. Affected individuals can be followed-up by visual acuity measurements, visual field evaluations, electroretinography recordings (ERG), structural imaging with autofluorescence, spectral-domain optical coherence tomography (OCT), and OCT angiography. Although an accurate clinical diagnosis can be reached by these innovative and non-invasive tools, genetic testing is necessary to confirm a specific phenotype, and segregation analysis can address the inheritance pattern. Gene discovery approaches clarified that mutations of about 280 different genes involved in eyes development, photoreceptor survival, phototransduction mechanisms, retinoid cycle, retinal enzymatic function, or cell structure are responsible for these degenerative diseases (RetNet. Available at: https://sph.uth.edu/retnet/) and the inheritance pattern can be autosomal dominant, recessive, or X-linked.
To improve the success rate of genetic/genomic diagnosis, new sequencing technologies have been explored, starting from targeted sequencing focused on multigene panels to whole exome sequencing (WES) and sequencing of the entire genome (WGS). Because of the genetic heterogeneity of IRDs, the congruence of clinical and molecular diagnosis is a necessary goal to characterize exactly the phenotype and to increase the chance of therapeutically beneficial strategies.
A major challenge consists in identifying novel genes encoding for the diseases. This extreme genetic heterogeneity accounts for about 30% of the detection failure of molecular diagnosis. With the possibility of investigating WES or WGS, broader windows are opened for gene discovery.
- Being tested
- whole genome sequencing
- Keywords
- IRD, RP, WGS, molecular diagnosis
- Medical subject headings
- Retinitis Pigmentosa, Macular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
whole genome sequencingDiagnostic test
Whole genome sequencing will be performed in patients whose test was negative for the targeted resequencing and/or clinical exome sequencing.
| Study group | Role | What they receive |
|---|---|---|
| FB_001 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_002 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_003 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_004 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_005 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_006 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_007 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_008 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_009 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0010 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0011 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0012 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0013 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0014 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0015 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0016 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0017 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0018 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0019 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0020 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0021 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0022 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0023 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0024 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0025 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0026 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0027 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0028 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0029 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing | |
| FB_0030 | Proband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. Receives: Diagnostic Test: whole genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Understanding genetic missing pathogenetic variants in IRD
Identification of genetic variants causative of the clinical phenotype
Measured: two years
Secondary outcomes (1)
Gene discovery in IRD
Identification of novel disease genes responsible for IRD.
Measured: two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2023
- Study start15 Nov 2022
- Primary completion2 Nov 2024
- Study completion2 Nov 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Inherited Retinal DystrophyStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 120 participants (actual)
Sponsor and investigators
- Lead sponsor
- Istituto Superiore di Sanità
- Sponsor type
- University, hospital or other
- Collaborators
- Fondazione G.B. Bietti, IRCCS, Ospedale Pediatrico Bambin Gesù
- Responsible party
- Principal investigator, Viviana Cordeddu, Istituto Superiore di Sanità
- Investigators
- Viviana Cordeddu, PhD, Principal investigator, Istituto Superiore di Sanità
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05793515
- Sponsor's protocol ID
- ISS20-5656c541c257
- Status last verified
- Apr 2025
- First submitted
- 20 Mar 2023
- Last updated
- 18 Apr 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We plan to share anonymized genomic data among the three partners involved in the study by telecall meetings and shared cloud folders.
Publications
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulic N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sorensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28.
PubMed 38423010
Study at a glance
From the registry record, last updated by the sponsor on 18 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- "Understanding Genetic Missing Variability and Pathogenetic Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models"
- ClinicalTrials.gov ID
- NCT05793515
- Acronym / sponsor ID
- ISS20-5656c541c257
- Keywords
- IRD, RP, WGS, molecular diagnosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 120 participants (actual)
- Lead sponsor
- Istituto Superiore di SanitàUniversity, hospital or other
- Collaborators
- Fondazione G.B. Bietti, IRCCS, Ospedale Pediatrico Bambin Gesù
- Study start
- 15 Nov 2022 (actual)
- Primary completion
- 2 Nov 2024 (actual)
- Study completion
- 2 Nov 2024 (actual)
- First posted
- 31 Mar 2023 (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.
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness. Characterizing the genetic bases of IRDs will help to understand the pathogenesis underlying the development of retinal damage. Despite the advances in molecular identification of genes causing disease, unsolved IRDs constitute about 40% of all cases.
Goal of this study is to solve missing heritability in IRD using whole genome sequencing (WGS) to identify the genetic causes in clinically well-characterized patients without a molecular diagnosis.
The identification of novel genes that have a role in the development or maintenance of retinal function will lead to the development of new therapeutic approaches and will favour a more prompt diagnosis and improvement of patient management.
Detailed description
IRDs are rare neurodegenerative and genetically heterogeneous conditions with a wide spectrum of presentations, even among affected members of the same family. These disorders exhibit a large range of phenotypes with significant overlap, that can be broadly divided into three main groups: those principally affecting the periphery such as retinitis pigmentosa (RP) and choroideremia; those primarily involving the macula, known as 'macular' or 'central' dystrophies; and those affecting both the centre and periphery as seen in cone-rod or rod-cone dystrophies. Collectively, IRDs have an incidence of 1:2000, impacting approx. 2 million people worldwide and patients are progressively visually impaired. Affected individuals can be followed-up by visual acuity measurements, visual field evaluations, electroretinography recordings (ERG), structural imaging with autofluorescence, spectral-domain optical coherence tomography (OCT), and OCT angiography. Although an accurate clinical diagnosis can be reached by these innovative and non-invasive tools, genetic testing is necessary to confirm a specific phenotype, and segregation analysis can address the inheritance pattern. Gene discovery approaches clarified that mutations of about 280 different genes involved in eyes development, photoreceptor survival, phototransduction mechanisms, retinoid cycle, retinal enzymatic function, or cell structure are responsible for these degenerative diseases (RetNet. Available at: https://sph.uth.edu/retnet/) and the inheritance pattern can be autosomal dominant, recessive, or X-linked.
To improve the success rate of genetic/genomic diagnosis, new sequencing technologies have been explored, starting from targeted sequencing focused on multigene panels to whole exome sequencing (WES) and sequencing of the entire genome (WGS). Because of the genetic heterogeneity of IRDs, the congruence of clinical and molecular diagnosis is a necessary goal to characterize exactly the phenotype and to increase the chance of therapeutically beneficial strategies.
A major challenge consists in identifying novel genes encoding for the diseases. This extreme genetic heterogeneity accounts for about 30% of the detection failure of molecular diagnosis. With the possibility of investigating WES or WGS, broader windows are opened for gene discovery.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 30
| Arm | Type | Receives |
|---|---|---|
| FB_001 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_002 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_003 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_004 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_005 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_006 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_007 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_008 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_009 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0010 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0011 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0012 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0013 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0014 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0015 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0016 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0017 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0018 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0019 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0020 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0021 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0022 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0023 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0024 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0025 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0026 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0027 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0028 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0029 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
| FB_0030 | – | Diagnostic Test: whole genome sequencingProband affected by IRD and affected and/or unaffected relatives without molecular diagnosis. |
Who may qualify
- Ages
- 5 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Male and female patients, aged between 5 and 80 years, suffering from retinal or optic nerve degeneration of a hereditary nature. Patients will be recruited at the IRCSS Fondazione Bietti in Rome and undergo ophthalmological examinations and instrumental tests. Candidate subjects are a clinically well-characterized cohort of patients with ocular dystrophies, including IRDs already clinically followed for at least 12 months and without a conclusive molecular diagnosis.
Key inclusion criteria (3 listed)
- Patients with retinal and optic nerve dystrophy of suspected hereditary nature.
- Probands with clinical follow-up of at least 12 months.
- Patients with an inconclusive molecular diagnosis by means of molecular-genetic tests for the genes known to date for the diagnosed pathology.
Key exclusion criteria (3 listed)
- Patients with a clinical diagnosis of no proven genetic origin.
- Patients whose parents' or second degree relatives' samples are not available.
- Patients who refuse to be informed of the genetic results obtained, including incidental clinically relevant, validated and actionable for the patient himself and/or his family.
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 |
|---|---|---|
| whole genome sequencingWhole genome sequencing will be performed in patients whose test was negative for the targeted resequencing and/or clinical exome sequencing. | Diagnostic test | FB_001, FB_0010, FB_0011, FB_0012, FB_0013, FB_0014, FB_0015, FB_0016, FB_0017, FB_0018, FB_0019, FB_002, FB_0020, FB_0021, FB_0022, FB_0023, FB_0024, FB_0025, FB_0026, FB_0027, FB_0028, FB_0029, FB_003, FB_0030, FB_004, FB_005, FB_006, FB_007, FB_008, FB_009 |
Primary outcome
Understanding genetic missing pathogenetic variants in IRD
Time frame: two years
Identification of genetic variants causative of the clinical phenotype
1 secondary outcome
Gene discovery in IRD
Time frame: two years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Apr 2025.
- Derived from this study: PubMed 38423010Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulic N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sorensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28.
- Individual participant dataSharing planned: Undecided. We plan to share anonymized genomic data among the three partners involved in the study by telecall meetings and shared cloud folders.
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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. This study is not recruiting at the moment.
Viviana Cordeddu, PhD principal investigator
Istituto Superiore di Sanità
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Retinal Dystrophy and Retinitis Pigmentosa, run by Istituto Superiore di Sanità at 1 site in Italy.
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 3 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: finished, as of the sponsor's last update on 18 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Understanding genetic missing pathogenetic variants in IRD (time frame: two years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05793515, which also lists 1 linked publication.
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 18 Apr 2025.