Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa

NCT ID: NCT06368375

Last Updated: 2024-04-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

87 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-01-01

Study Completion Date

2023-06-30

Brief Summary

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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)

Detailed Description

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Conditions

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Retinitis Pigmentosa

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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Inclusion Criteria

* genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)

Exclusion Criteria

* none
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital Tuebingen

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Laura Kuehlewein, MD

Role: PRINCIPAL_INVESTIGATOR

Department for Ophthalmology, University of Tuebingen

Susanne Kohl, PhD

Role: PRINCIPAL_INVESTIGATOR

Molecular Genetics Laboratory, Department for Ophthalmology, University of Tuebingen

Locations

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University Hospital Tuebingen

Tübingen, Baden-Wurttemberg, Germany

Site Status

Countries

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Germany

Other Identifiers

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PRPF31-3102022BO2

Identifier Type: -

Identifier Source: org_study_id

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