NCT06368375

Brief Summary

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)

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
87

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jan 2023

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2023

Completed
6 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2023

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

April 4, 2024

Completed
12 days until next milestone

First Posted

Study publicly available on registry

April 16, 2024

Completed
Last Updated

April 16, 2024

Status Verified

March 1, 2024

Enrollment Period

6 months

First QC Date

April 4, 2024

Last Update Submit

April 10, 2024

Conditions

Retinitis Pigmentosa

Keywords

retinitis pigmentosaPRPF31inherited retinal dystrophycarrier

Outcome Measures

Primary Outcomes (7)

  • Best Corrected Visual Acuity (BCVA)

    best corrected visual acuity

    September 2007 - January 2022

  • Visual Field (VF)

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

    September 2007 - January 2022

  • Fundus Photography (FP)

    characterization of the retina with fundus photography

    September 2007 - January 2022

  • Optos

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

    September 2007 - January 2022

  • Autofluorescence (AF)

    characterization of the retina with fundus autofluorescence

    September 2007 - January 2022

  • Optical Coherence Tomography (OCT)

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

    September 2007 - January 2022

  • Full-Field Electroretinogram (ff-ERG)

    characterization of retinal function with full-field electroretinogram

    September 2007 - January 2022

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

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

You may not qualify if:

  • none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Hospital Tuebingen

Tübingen, Baden-Wurttemberg, 72076, Germany

Location

MeSH Terms

Conditions

Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryEye DiseasesRetinal DystrophiesRetinal DegenerationRetinal DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Laura Kuehlewein, MD

    Department for Ophthalmology, University of Tuebingen

    PRINCIPAL INVESTIGATOR

  • Susanne Kohl, PhD

    Molecular Genetics Laboratory, Department for Ophthalmology, University of Tuebingen

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 4, 2024

First Posted

April 16, 2024

Study Start

January 1, 2023

Primary Completion

June 30, 2023

Study Completion

June 30, 2023

Last Updated

April 16, 2024

Record last verified: 2024-03

Data Sharing

IPD Sharing
Will not share

Locations

DE(1)