InsightRP2 Registry

NCT06982417 | Recruiting

• 1 other identifier: 11/11/24
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

RP2-associated Retinitis Pigmentosa; X-Linked Retinitis Pigmentosa (XLRP); Retinitis Pigmentosa 2

Keywords

RP2, Retinitis pigmentosa, RP2-associated Retinitis pigmentosa

Outcome Measures

Primary Outcomes (2)

• Genotype-phenotype correlation age of onset

  Influence of variant type on age of onset

  1 year

• Phenotype-genotype correlation progression

  Influence of variant type on disease progression

  20 years

Study Arms (1)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Individuals affected by RP2-associated Retinitis pigmentosa worldwide.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Göttingen: lead

Study Sites (1)

University Medicine Göttingen

Göttingen, Lower Saxony, 37073, Germany

RECRUITING

Related Links

• Homepage containing information about the InsightRP2 study and registry, as well as links to access the informed consent depending on the participant's age.

MeSH Terms

Conditions

Retinitis Pigmentosa 2; Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Nina Bögershausen, MD

CONTACT

+49 (0)551 / 39-69016; insight.rp2@med.uni-goettingen.de

Bernd Wollnik, MD, Prof.

CONTACT

+49 (0)551 / 39-67589; insight.rp2@med.uni-goettingen.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: May 13, 2025
• First Posted: May 21, 2025
• Study Start: May 1, 2025
• Primary Completion (Estimated): May 1, 2045
• Study Completion (Estimated): May 1, 2045
• Last Updated: May 21, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)