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OpenTrials
Completed

NCT Number: NCT06368375

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

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)

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Tuebingen

Tübingen, Baden-Wurttemberg, 72076, Germany

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • none

Treatment and study plan

Primary outcomes

  1. Best Corrected Visual Acuity (BCVA)

    Time frame: September 2007 - January 2022

    best corrected visual acuity

  2. Visual Field (VF)

    Time frame: September 2007 - January 2022

    visual field as measured by semi-automated 90° kinetic visual field exam using target III4e

  3. Fundus Photography (FP)

    Time frame: September 2007 - January 2022

    characterization of the retina with fundus photography

  4. Optos

    Time frame: September 2007 - January 2022

    characterization of the retina with ultra-wide-field scanning laser ophthalmoscopy

  5. Autofluorescence (AF)

    Time frame: September 2007 - January 2022

    characterization of the retina with fundus autofluorescence

  6. Optical Coherence Tomography (OCT)

    Time frame: September 2007 - January 2022

    characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss

  7. Full-Field Electroretinogram (ff-ERG)

    Time frame: September 2007 - January 2022

    characterization of retinal function with full-field electroretinogram

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Important dates

Study start
2023
Primary completion
2023
Study completion
2023
First posted
Apr 16, 2024
Registry last updated
Apr 16, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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