InsightRP2 Registry
Joining forces
Better understand RP2-associated
retinitis pigmentosa
RP2-associated retinitis pigmentosa is rare – and this is precisely why every individual experience matters.
The InsightRP2 Registry is the first worldwide registry dedicated specifically to patients with retinitis pigmentosa caused by variants in the RP2 gene.
In this register, we compile clinical and genetic information from affected individuals on the cause, course and treatment of their visual impairment. We also collect imaging data (for example fundus photography and optical coherence tomography) and analyse how the retina changes at the beginning and over the course of the disease. In this way, we aim to better understand disease progression and pave the way for future therapies.
Participation in the register is voluntary, can be done online and withdrawn at any time. By taking part, you may help to improve care for people with RP2-associated retinitis pigmentosa in the long term.
For patients
You have retinitis pigmentosa due to a confirmed RP2 gene variant?
You can register online via the registry website.
Please use the following links depending on the age of the person affected:
For physicians
You would like to register your patient(s) to the InsightRP2 Registry?
Please download the patient information and consent form here:
Please send the signed consent form to:
InsightRP2 Registry - Frequently asked questions (FAQ)
We have compiled key questions and answers about the InsightRP2 Registry for you. Here you can find out who can participate, which information is required, how your data are protected and what participation involves.
What is the purpose of the InsightRP2 Registry?
The InsightRP2 Registry is a patient registry for people with RP2-associated retinitis pigmentosa. Its purpose is to bring together clinical and genetic information to support research, patient care and future therapy development.
We analyse the data collected in the registry to better understand different aspects of RP2-associated retinitis pigmentosa, for example:
- Which types of RP2 mutations are occuring frequently?
- How do individual mutations influence age at onset and disease progression?
- How does the disease progress from the perspective of affected individuals?
- Are there additional associated health problems, as for example a tendency to rheumatic symptoms?
This registry study has been approved by the Ethics Committee of the University Medical Center Göttingen (approval: 11/11/24; study centre ID: 2024-03564).
Who can participate?
People of any age and gender can participate if they have RP2-associated retinitis pigmentosa confirmed by molecular genetic testing. A molecular genetic report documenting a disease-causing variant in the RP2 gene is therefore required for participation. Participation in the registry is voluntary and free of charge.
Minors can also take part. In this case, consent from both parents is required.
Who cannot participate?
Unfortunately, we cannot include people with other forms of retinitis pigmentosa in the RP2 Registry. They can, however, register for example in the patient registry of the German patient organisation for retinal diseases, PRO RETINA.
If you are unsure whether you have RP2-associated retinitis pigmentosa or another form of retinitis pigmentosa, please first contact your treating physicians to clarify the genetic cause of your condition.
How can I register myself or my child?
As a patient, you can register online (see links above). First, you complete the consent form on the registry website. Please note the different links according to age group.
Afterwards, you will receive a personal access link to the study questionnaire via encrypted email. There you can provide information about your disease, medical history and existing findings.
Do I need specific documents to register?
You will need the molecular genetic report confirming the RP2 variant. This report must be uploaded in the study questionnaire. If you do not have this report, please first contact your treating physicians in advance. If you need assistance, feel free to contact us.
In addition, ophthalmological reports, medical letters, visual function test results or other medical documents relevant to your condition are helpful. In the online questionnaire, you can upload available documents and imaging data, for example ophthalmic images. Please remove personal identifiers such as name, date of birth or address before uploading or make them unrecognisable.
Can medical documents also be requested from my treating physicians?
Yes. In the consent form, you can decide whether we may contact your treating ophthalmologists and in the study questionnaire, you can specify the name and email address of your ophthalmologist(s). Please indicate from whom we can obtain the most relevant examination results. You can also give this consent to request findings at a later time.
What data are collected?
As part of the consent process, basic personal data such as first name, last name, date of birth and email address are collected and processed in pseudonymised form.
Subsequently, the study questionnaire collects genetic and medical data, including information about medical history, course of the visual impairment, treatments as well as, where applicable, ophthalmological findings and imaging data.
Where are the data collected and stored?
Data are collected and stored in a secure REDCap-based database at the University Medical Center Göttingen. Personal data, consent forms, medical data and pseudonymisation keys are stored separately on secure institutional servers with restricted access.
Are my data protected?
Yes. Your data are processed in accordance with the GDPR, stored in pseudonymised form and protected against unauthorised access. For publications and scientific presentations, the data are additionally double-pseudonymised to minimise the possibility of drawing conclusions about individual persons.
Do I have any personal benefit from participating?
There is no direct individual medical benefit from participation. However, your participation can help to better understand the disease and its course, support research and, in the long term, contribute to improved care and future therapy development.
Can I withdraw my participation?
Yes. You can withdraw your consent at any time without stating reasons. This will not result in any disadvantages for your further medical care; however, data that have already been processed or published before withdrawal remain unaffected. In the event of withdrawal, your personal data will be deleted.
Please send your withdrawal to: insight.rp2(at)med.uni-goettingen.de
Who is responsible for the register?
The registry is hosted at the Institute of Human Genetics, University Medical Center Göttingen. The study is led by Prof. Dr. med. Bernd Wollnik, Director of the Department of Human Genetics, and Dr. med. Nina Bögershausen, specialist in clinical genetics at the Department. They have access to the personal data and pseudonymisation keys.
You can contact the study leaders at: insight.rp2(at)med.uni-goettingen.de