RP2-associated Retinitis PigmentosaNCT06982417
InsightRP2 Registry
An observational study of RP2-associated Retinitis Pigmentosa and X-Linked Retinitis Pigmentosa (XLRP), run by University of Göttingen at 1 site in Germany.
Trial summary
InsightRP2 is a secure online patient registry specific to RP2-associated retinitis pigmentosa (RP). It is our goal to further the scientific understanding of this rare disease and to support research in to a gene therapy for RP2-associated RP. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- RP2-associated Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP), Retinitis Pigmentosa 2
- How many people
- 200 participants
- Where
- 1 siteGermany
- Study dates
- 1 May 2025to 1 May 2045
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals affected by RP2-associated Retinitis pigmentosa worldwide.
Who may be able to join
- A molecular genetic diagnosis involving a heterozygous or hemizygous variant in RP2 and a written informed consent to participate are required for access to the registry questionnaire. Patients of all ages meeting the above criteria will be allowed to participate. As documentation will be in English and German, those who can navigate these pages will be included.
Who cannot join
- Patients with evidence of non-RP2 molecular genetic diagnoses will be excluded. Collection of data and further analysis will not be possible without the consent of the patient or legal guardian. Patients who cannot navigate registry documentation in English or German will be excluded.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
University Medicine Göttingen
Göttingen, Lower Saxony, 37073
Nina Bögershausen, MD, +49 (0)551 / 39-69016, insight.rp2@med.uni-goettingen.de
Bernd Wollnik, MD, Prof., +49 (0)551 / 39-67589, insight.rp2@med.uni-goettingen.de
About this study
Official title: InsightRP2: a Global Patient Registry for RP2-associated Retinitis Pigmentosa
InsightRP2 is a secure online patient registry specific to RP2-associated retinitis pigmentosa (RP). It is our goal to further the scientific understanding of this rare disease and to support research in to a gene therapy for RP2-associated RP.
We collect medical, genetic and imaging data from people affected by RP2-associated RP and will coduct a natural history study as well as image analysis studies.
Read the detailed description
There is currently no specific patient registry for RP2-associated retinitis pigmentosa. Due to the rarity of the disease, only a few patients with this disease are seen at various care sites, making clinical care and diagnosis very challenging. In addition, there are numerous knowledge gaps regarding the course of the disease, the disease mechanisms and therapeutic approaches, which poses additional challenges for patient care. Understanding and future treatment of RP2-associated RP is crucial due to its early onset and rapid progression. There is an urgent need for targeted research to develop effective therapies.
At the Institute of Human Genetics Göttingen, we have set ourselves the goal of investigating the disease mechanisms of RP2-associated RP and contributing to the long-term development of a therapy for this rare disease.
For this purpose, we have set up a patient registry specifically for RP2-associated RP. The registry is fully online, using a secure REDCap-based database hosted at the University Medical Center Göttingen. The medical data collected will enable us to conduct studies on the natural history, mutation distribution and possible genotype-phenotype correlations of this disease. In addition, the collection of medical image data will enable evaluation for the purpose of improving diagnostic processes and supporting therapeutic studies. Last but not least, we aim to form a patient collective who can be offered participation in possible therapy studies at a later date.
We will collect retrospective data, however patient's might be recontacted at a later timepoint, which is why we have designated the time perspective as "other" in the description of the study design.
- Conditions
- RP2-associated Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP), Retinitis Pigmentosa 2
- Keywords
- RP2, Retinitis pigmentosa, RP2-associated Retinitis pigmentosa
- Medical subject headings
- Retinitis Pigmentosa 2, Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Individuals with Retinitis pigmentosa due to a variant / mutation in the RP2 gene | A molecular genetic diagnosis involving a heterozygous or hemizygous variant in RP2 and a written informed consent to participate are required for access to the registry questionnaire. Patients of all ages meeting the above criteria will be allowed to participate. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genotype-phenotype correlation age of onset
Influence of variant type on age of onset
Measured: 1 year
Phenotype-genotype correlation progression
Influence of variant type on disease progression
Measured: 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 May 2025
- Study start1 May 2025
- Primary completion1 May 2045 (estimated)
- Study completion1 May 2045 (estimated)
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 RP2-associated 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
- Other
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Göttingen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nina Bogershausen, University of Göttingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06982417
- Sponsor's protocol ID
- 11/11/24
- Status last verified
- May 2025
- First submitted
- 13 May 2025
- Last updated
- 21 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD will be collected over a longer period of time. IPD will be shared as a supplementary information to a publication and made accessible in an open access journal. Informed consent information is freely available in the registry or via our homepage (see links).
Publications
Bogershausen N, Doring P, Gerhardt M, Fedorenko A, Strohmeyer C, Bayati R, Li Y, Yigit G, Kaygusuz E, Gutierrez-Gutierrez O, Gaubert M, Javanmardi B, Boss K, Kowallick A, Krawitz P, Michalakis S, Ueffing M, Zimmermann WH, Hoerauf H, Buning H, Feltgen N, Cyganek L, Wollnik B. Insights Into RP2-Associated Retinopathy: From Molecular Basis to Clinical Translation. Hum Mutat. 2026 Oct 17;2026:1839164. doi: 10.1155/humu/1839164. eCollection 2026.
PubMed 42892975
Study at a glance
From the registry record, last updated by the sponsor on 21 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- InsightRP2: a Global Patient Registry for RP2-associated Retinitis Pigmentosa
- ClinicalTrials.gov ID
- NCT06982417
- Acronym / sponsor ID
- 11/11/24
- Conditions
- RP2-associated Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP), Retinitis Pigmentosa 2
- Keywords
- RP2, Retinitis pigmentosa, RP2-associated Retinitis pigmentosa
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University of GöttingenUniversity, hospital or other
- Study start
- 1 May 2025 (actual)
- Primary completion
- 1 May 2045 (estimated)
- Study completion
- 1 May 2045 (estimated)
- First posted
- 21 May 2025 (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.
InsightRP2 is a secure online patient registry specific to RP2-associated retinitis pigmentosa (RP). It is our goal to further the scientific understanding of this rare disease and to support research in to a gene therapy for RP2-associated RP.
We collect medical, genetic and imaging data from people affected by RP2-associated RP and will coduct a natural history study as well as image analysis studies.
Detailed description
There is currently no specific patient registry for RP2-associated retinitis pigmentosa. Due to the rarity of the disease, only a few patients with this disease are seen at various care sites, making clinical care and diagnosis very challenging. In addition, there are numerous knowledge gaps regarding the course of the disease, the disease mechanisms and therapeutic approaches, which poses additional challenges for patient care. Understanding and future treatment of RP2-associated RP is crucial due to its early onset and rapid progression. There is an urgent need for targeted research to develop effective therapies.
At the Institute of Human Genetics Göttingen, we have set ourselves the goal of investigating the disease mechanisms of RP2-associated RP and contributing to the long-term development of a therapy for this rare disease.
For this purpose, we have set up a patient registry specifically for RP2-associated RP. The registry is fully online, using a secure REDCap-based database hosted at the University Medical Center Göttingen. The medical data collected will enable us to conduct studies on the natural history, mutation distribution and possible genotype-phenotype correlations of this disease. In addition, the collection of medical image data will enable evaluation for the purpose of improving diagnostic processes and supporting therapeutic studies. Last but not least, we aim to form a patient collective who can be offered participation in possible therapy studies at a later date.
We will collect retrospective data, however patient's might be recontacted at a later timepoint, which is why we have designated the time perspective as "other" in the description of the study design.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with Retinitis pigmentosa due to a variant / mutation in the RP2 gene | – | –A molecular genetic diagnosis involving a heterozygous or hemizygous variant in RP2 and a written informed consent to participate are required for access to the registry questionnaire. Patients of all ages meeting the above criteria will be allowed to participate. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals affected by RP2-associated Retinitis pigmentosa worldwide.
Key inclusion criteria (1 listed)
- A molecular genetic diagnosis involving a heterozygous or hemizygous variant in RP2 and a written informed consent to participate are required for access to the registry questionnaire. Patients of all ages meeting the above criteria will be allowed to participate. As documentation will be in English and German, those who can navigate these pages will be included.
Key exclusion criteria (1 listed)
- Patients with evidence of non-RP2 molecular genetic diagnoses will be excluded. Collection of data and further analysis will not be possible without the consent of the patient or legal guardian. Patients who cannot navigate registry documentation in English or German will be excluded.
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
Genotype-phenotype correlation age of onset
Time frame: 1 year
Influence of variant type on age of onset
Phenotype-genotype correlation progression
Time frame: 20 years
Influence of variant type on disease progression
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 21 May 2025.
- Derived from this study: PubMed 42892975Bogershausen N, Doring P, Gerhardt M, Fedorenko A, Strohmeyer C, Bayati R, Li Y, Yigit G, Kaygusuz E, Gutierrez-Gutierrez O, Gaubert M, Javanmardi B, Boss K, Kowallick A, Krawitz P, Michalakis S, Ueffing M, Zimmermann WH, Hoerauf H, Buning H, Feltgen N, Cyganek L, Wollnik B. Insights Into RP2-Associated Retinopathy: From Molecular Basis to Clinical Translation. Hum Mutat. 2026 Oct 17;2026:1839164. doi: 10.1155/humu/1839164. eCollection 2026.
- Individual participant dataSharing planned: No. IPD will be collected over a longer period of time. IPD will be shared as a supplementary information to a publication and made accessible in an open access journal. Informed consent information is freely available in the registry or via our homepage (see links).
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.
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 RP2-associated Retinitis Pigmentosa and X-Linked Retinitis Pigmentosa (XLRP), run by University of Göttingen 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: looking for participants now, as of the sponsor's last update on 21 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?
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?
Contact Nina Bögershausen, MD (+49 (0)551 / 39-69016, insight.rp2@med.uni-goettingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genotype-phenotype correlation age of onset (time frame: 1 year). The study lists 2 primary outcomes in all. 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 NCT06982417, 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 21 May 2025; AzTrials last refreshed its copy on 27 Oct 2026.