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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02759952
Recruitment Status : Enrolling by invitation
First Posted : May 3, 2016
Last Update Posted : April 19, 2018
Sponsor:
Information provided by (Responsible Party):
STZ eyetrial

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).

Condition or disease
Retinitis Pigmentosa

Detailed 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.


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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial: An Observational Study
Study Start Date : January 2013
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2020

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. best corrected visual acuity in both eyes [ Time Frame: 3 years ]
  2. kinetic visual field in both eyes [ Time Frame: 3 years ]
  3. central retinal thickness in both eyes [ Time Frame: 3 years ]

Secondary Outcome Measures :
  1. multifocal ERG responses in both eyes [ Time Frame: 3 years ]
  2. colour vision in both eyes [ Time Frame: 3 years ]

Biospecimen Retention:   Samples With DNA
Blood samples (DNA) for genetic validation of genotype


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Retinitis pigmentosa patients with genetically confirmed mutations in the PDE6A-gene
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02759952


Locations
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Germany
Institute for Ophthalmic Research, University Tübingen, Germany
Tübingen, Baden-Württemberg, Germany, 72076
Sponsors and Collaborators
STZ eyetrial
Investigators
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Principal Investigator: Ditta Zobor, MD, PhD Institute for Ophthalmic Research, University Tübingen, Germany
Principal Investigator: Susanne Kohl, PhD Institute for Ophthalmic Research, University Tübingen, Germany

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Responsible Party: STZ eyetrial
ClinicalTrials.gov Identifier: NCT02759952     History of Changes
Other Study ID Numbers: RDC-PDE6A-01
First Posted: May 3, 2016    Key Record Dates
Last Update Posted: April 19, 2018
Last Verified: April 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by STZ eyetrial:
retinitis pigmentosa
PDE6A
gene therapy trial

Additional relevant MeSH terms:
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Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn