Retinitis PigmentosaNCT06368375
Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa
An observational study of Retinitis Pigmentosa, run by University Hospital Tuebingen at 1 site in Germany.
Trial summary
Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s) Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Retinitis Pigmentosa
- How many people
- 87 participants
- Where
- 1 siteGermany
- Study dates
- 1 Jan 2023to 30 Jun 2023
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
Who may be able to join
- genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
Germany1 site
University Hospital Tuebingen
Tübingen, Baden-Wurttemberg, 72076
About this study
Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s)
- Conditions
- Retinitis Pigmentosa
- Keywords
- retinitis pigmentosa, PRPF31, inherited retinal dystrophy, carrier
- Medical subject headings
- Retinitis Pigmentosa
What is being measured
The primary outcome is the main question the study is designed to answer.
Best Corrected Visual Acuity (BCVA)
best corrected visual acuity
Measured: September 2007 - January 2022
Visual Field (VF)
visual field as measured by semi-automated 90° kinetic visual field exam using target III4e
Measured: September 2007 - January 2022
Fundus Photography (FP)
characterization of the retina with fundus photography
Measured: September 2007 - January 2022
Optos
characterization of the retina with ultra-wide-field scanning laser ophthalmoscopy
Measured: September 2007 - January 2022
Autofluorescence (AF)
characterization of the retina with fundus autofluorescence
Measured: September 2007 - January 2022
Optical Coherence Tomography (OCT)
characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss
Measured: September 2007 - January 2022
Full-Field Electroretinogram (ff-ERG)
characterization of retinal function with full-field electroretinogram
Measured: September 2007 - January 2022
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Apr 2024
- Study start1 Jan 2023
- Primary completion30 Jun 2023
- Study completion30 Jun 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinitis PigmentosaStudies of the same condition, open and under way.
- More trials run by University Hospital TuebingenThe sponsor's other registered studies.
- 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
- Cross-sectional
- Enrolment
- 87 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Laura Kuehlewein, MD, Principal investigator, Department for Ophthalmology, University of TuebingenSusanne Kohl, PhD, Principal investigator, Molecular Genetics Laboratory, Department for Ophthalmology, University of Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06368375
- Sponsor's protocol ID
- PRPF31-3102022BO2
- Status last verified
- Mar 2024
- First submitted
- 4 Apr 2024
- Last updated
- 16 Apr 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa
- ClinicalTrials.gov ID
- NCT06368375
- Acronym / sponsor ID
- PRPF31-3102022BO2
- Conditions
- Retinitis Pigmentosa
- Keywords
- retinitis pigmentosa, PRPF31, inherited retinal dystrophy, carrier
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 87 participants (actual)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 1 Jan 2023 (actual)
- Primary completion
- 30 Jun 2023 (actual)
- Study completion
- 30 Jun 2023 (actual)
- First posted
- 16 Apr 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.
Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s)
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
Key inclusion criteria (1 listed)
- genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Best Corrected Visual Acuity (BCVA)
Time frame: September 2007 - January 2022
best corrected visual acuity
Visual Field (VF)
Time frame: September 2007 - January 2022
visual field as measured by semi-automated 90° kinetic visual field exam using target III4e
Fundus Photography (FP)
Time frame: September 2007 - January 2022
characterization of the retina with fundus photography
Optos
Time frame: September 2007 - January 2022
characterization of the retina with ultra-wide-field scanning laser ophthalmoscopy
Autofluorescence (AF)
Time frame: September 2007 - January 2022
characterization of the retina with fundus autofluorescence
Optical Coherence Tomography (OCT)
Time frame: September 2007 - January 2022
characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss
Full-Field Electroretinogram (ff-ERG)
Time frame: September 2007 - January 2022
characterization of retinal function with full-field electroretinogram
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 16 Apr 2024.
- Individual participant dataSharing planned: No
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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.
Laura Kuehlewein, MD principal investigator
Department for Ophthalmology, University of Tuebingen
Susanne Kohl, PhD principal investigator
Molecular Genetics Laboratory, Department for Ophthalmology, University of Tuebingen
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 Retinitis Pigmentosa, run by University Hospital Tuebingen at 1 site in Germany.
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 1 inclusion and 1 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 16 Apr 2024. 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 Germany. 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?
Best Corrected Visual Acuity (BCVA) (time frame: September 2007 - January 2022). The study lists 7 primary outcomes in all. 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 16 Apr 2024.