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

Retinitis Pigmentosa Clinical Trial

Official title:

Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial: An Observational Study

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT02759952
• Other study ID #: RDC-PDE6A-00
• Status: Enrolling by invitation
• Start date: January 2013
• Est. completion date: December 2025

Study information

• Verified date: November 2023
• Source: STZ eyetrial
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Description:

Retinitis pigmentosa (RP) is a clinically and genetically heterogenous group of hereditary retinal disorders, being one of the most common types of retinal degenerations with a prevalence of 1:4000. More than 45 genes have been associated with RP so far, whose defects cause a progressive loss of rod photoreceptor function, followed by cone photoreceptor dysfunction often leading to complete blindness. 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. With the help of improved genetic and functional diagnostic tools an early recognition and differentiation has become possible. Still, up to date no established therapy is available, therefore, social and professional consequences are essential tasks to deal with. The modern ophthalmological functional diagnostic tools enable a precise characterisation and early recognition of such retinal diseases. The detailed results and information can help to extend the understanding of the pathological mechanisms involved in these diseases. In this study the investigators intend to investigate patients with a genetically confirmed diagnosis of Retinitis pigmentosa due to PDE6A mutations hereby assessing the function and structure of the retina with an extensive battery of tests.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 50
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

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

Related Conditions & MeSH terms

• Retinitis
• Retinitis Pigmentosa

Locations

Country	Name	City	State
Germany	Institute for Ophthalmic Research, University Tübingen, Germany	Tübingen	Baden-Württemberg

Sponsors (1)

Lead Sponsor	Collaborator
STZ eyetrial

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	best corrected visual acuity in both eyes		3 years
Primary	kinetic visual field in both eyes		3 years
Primary	central retinal thickness in both eyes		3 years
Secondary	multifocal ERG responses in both eyes		3 years
Secondary	colour vision in both eyes		3 years