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Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial

NCT02759952 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-05-18

No results posted yet for this study

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).

Conditions

Sponsors & Collaborators

  • STZ eyetrial

    lead OTHER

Principal Investigators

  • Ditta Zobor, MD, PhD · Institute for Ophthalmic Research, University Tübingen, Germany

  • Susanne Kohl, PhD · Institute for Ophthalmic Research, University Tübingen, Germany

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-01-31
Primary Completion
2025-05-31
Completion
2025-05-31

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02759952 on ClinicalTrials.gov