Retinitis PigmentosaNCT02759952
Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial
An observational study of Retinitis Pigmentosa, run by STZ eyetrial at 1 site in Germany.
Trial summary
Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Retinitis Pigmentosa
- How many people
- 50 participants
- Where
- 1 siteGermany
- Study dates
- Jan 2013to May 2025
- 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 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
Who may be able to join
- Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
- written informed consent
Who cannot join
- severe general disease, that would make longer examinations not possible
- patients who cannot give written informed consent independently
Trial locations and contacts
1 site in 1 country.
Germany1 site
Institute for Ophthalmic Research, University Tübingen, Germany
Tübingen, Baden-Wurttemberg, 72076
About this study
Official title: Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial: An Observational Study
Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. This study aims for a detailed clinical characterization of patients with PDE6A mutations in preparation of a clinical gene replacement study (phase I/II safety trial).
Read the detailed description
Retinitis pigmentosa (RP) is a clinically and genetically heterogenous group of hereditary retinal disorders, being one of the most common types of retinal degenerations with a prevalence of 1:4000. More than 45 genes have been associated with RP so far, whose defects cause a progressive loss of rod photoreceptor function, followed by cone photoreceptor dysfunction often leading to complete blindness. Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment.
With the help of improved genetic and functional diagnostic tools an early recognition and differentiation has become possible. Still, up to date no established therapy is available, therefore, social and professional consequences are essential tasks to deal with. The modern ophthalmological functional diagnostic tools enable a precise characterisation and early recognition of such retinal diseases. The detailed results and information can help to extend the understanding of the pathological mechanisms involved in these diseases.
In this study the investigators intend to investigate patients with a genetically confirmed diagnosis of Retinitis pigmentosa due to PDE6A mutations hereby assessing the function and structure of the retina with an extensive battery of tests.
- Conditions
- Retinitis Pigmentosa
- Keywords
- retinitis pigmentosa, PDE6A, gene therapy trial
- 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 in both eyes
Measured: 3 years
kinetic visual field in both eyes
Measured: 3 years
central retinal thickness in both eyes
Measured: 3 years
Secondary outcomes (2)
multifocal ERG responses in both eyes
Measured: 3 years
colour vision in both eyes
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 May 2016 (estimated)
- Study startJan 2013
- Primary completionMay 2025
- Study completionMay 2025
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.
- 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
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- STZ eyetrial
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ditta Zobor, MD, PhD, Principal investigator, Institute for Ophthalmic Research, University Tübingen, GermanySusanne Kohl, PhD, Principal investigator, Institute for Ophthalmic Research, University Tübingen, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02759952
- Sponsor's protocol ID
- RDC-PDE6A-00
- Status last verified
- May 2025
- First submitted
- 25 Apr 2016
- Last updated
- 18 May 2025
- 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 18 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial: An Observational Study
- ClinicalTrials.gov ID
- NCT02759952
- Acronym / sponsor ID
- RDC-PDE6A-00
- Conditions
- Retinitis Pigmentosa
- Keywords
- retinitis pigmentosa, PDE6A, gene therapy trial
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- STZ eyetrialUniversity, hospital or other
- Study start
- Jan 2013
- Primary completion
- May 2025 (actual)
- Study completion
- May 2025 (actual)
- First posted
- 3 May 2016 (estimated)
- 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.
Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. This study aims for a detailed clinical characterization of patients with PDE6A mutations in preparation of a clinical gene replacement study (phase I/II safety trial).
Detailed description
Retinitis pigmentosa (RP) is a clinically and genetically heterogenous group of hereditary retinal disorders, being one of the most common types of retinal degenerations with a prevalence of 1:4000. More than 45 genes have been associated with RP so far, whose defects cause a progressive loss of rod photoreceptor function, followed by cone photoreceptor dysfunction often leading to complete blindness. Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment.
With the help of improved genetic and functional diagnostic tools an early recognition and differentiation has become possible. Still, up to date no established therapy is available, therefore, social and professional consequences are essential tasks to deal with. The modern ophthalmological functional diagnostic tools enable a precise characterisation and early recognition of such retinal diseases. The detailed results and information can help to extend the understanding of the pathological mechanisms involved in these diseases.
In this study the investigators intend to investigate patients with a genetically confirmed diagnosis of Retinitis pigmentosa due to PDE6A mutations hereby assessing the function and structure of the retina with an extensive battery of tests.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
Key inclusion criteria (2 listed)
- Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
- written informed consent
Key exclusion criteria (2 listed)
- severe general disease, that would make longer examinations not possible
- patients who cannot give written informed consent independently
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 in both eyes
Time frame: 3 years
kinetic visual field in both eyes
Time frame: 3 years
central retinal thickness in both eyes
Time frame: 3 years
2 secondary outcomes
multifocal ERG responses in both eyes
Time frame: 3 years
colour vision in both eyes
Time frame: 3 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 May 2025.
- Individual participant dataSharing planned: No
Related trials for Retinitis Pigmentosa
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Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
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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.
Ditta Zobor, MD, PhD principal investigator
Institute for Ophthalmic Research, University Tübingen, Germany
Susanne Kohl, PhD principal investigator
Institute for Ophthalmic Research, University Tübingen, Germany
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 STZ eyetrial 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 2 inclusion and 2 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 May 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 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 in both eyes (time frame: 3 years). The study lists 3 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 18 May 2025.