NCT02759952

Brief Summary

Mutations in the PDE6A gene - encoding the -subunit of the rod cGMP-phosphodiesterase - account for 1% of autosomal recessive retinitis pigmentosa (arRP) through impaired regulation of cGMP levels in the rod outer segment. This study aims for a detailed clinical characterization of patients with PDE6A mutations in preparation of a clinical gene replacement study (phase I/II safety trial).

Trial Health

87
On Track

Trial Health Score

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

Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Jan 2013

Longer than P75 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

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2013

Completed
3.3 years until next milestone

First Submitted

Initial submission to the registry

April 25, 2016

Completed
8 days until next milestone

First Posted

Study publicly available on registry

May 3, 2016

Completed
9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2025

Completed
Last Updated

May 18, 2025

Status Verified

May 1, 2025

Enrollment Period

12.3 years

First QC Date

April 25, 2016

Last Update Submit

May 14, 2025

Conditions

Retinitis Pigmentosa

Keywords

retinitis pigmentosaPDE6Agene therapy trial

Outcome Measures

Primary Outcomes (3)

  • best corrected visual acuity in both eyes

    3 years

  • kinetic visual field in both eyes

    3 years

  • central retinal thickness in both eyes

    3 years

Secondary Outcomes (2)

  • multifocal ERG responses in both eyes

    3 years

  • colour vision in both eyes

    3 years

Eligibility Criteria

Age18 Years - 80 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene

You may qualify if:

  • Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
  • written informed consent

You may not qualify if:

  • severe general disease, that would make longer examinations not possible
  • patients who cannot give written informed consent independently

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Institute for Ophthalmic Research, University Tübingen, Germany

Tübingen, Baden-Wurttemberg, 72076, Germany

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples (DNA) for genetic validation of genotype

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

  • Ditta Zobor, MD, PhD

    Institute for Ophthalmic Research, University Tübingen, Germany

    PRINCIPAL INVESTIGATOR

  • Susanne Kohl, PhD

    Institute for Ophthalmic Research, University Tübingen, Germany

    PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

First Submitted

April 25, 2016

First Posted

May 3, 2016

Study Start

January 1, 2013

Primary Completion

May 1, 2025

Study Completion

May 1, 2025

Last Updated

May 18, 2025

Record last verified: 2025-05

Data Sharing

IPD Sharing
Will not share

Locations

DE(1)