Ignite Creation Date:
2024-05-06 @ 8:17 PM
Last Modification Date:
2024-10-26 @ 3:24 PM
Study NCT ID:
NCT06323772
Status:
RECRUITING
Last Update Posted:
2024-03-21
First Post:
2024-03-07
Brief Title:
Natural History Study in Patients With PDE6A- PDE6B- and RHO-linked Retinitis Pigmentosa
Sponsor:
University Hospital Tuebingen
Organization:
University Hospital Tuebingen
Study Overview
Official Title:
Exploration of New Sensitive Clinical Readouts and Biomarkers That Can be Used as Clinical Endpoints Tailored to Monitor Treatment Effects in PDE6A- PDE6B- and RHO-linked Retinitis Pigmentosa a Non-interventional Trial
Status:
RECRUITING
Status Verified Date:
2024-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The aim of the study is to apply a novel clinical investigation protocol in patients with Phosphodiesterase 6A PDE6A PDE6B and Rhodopsin RHO-based retinitis pigmentosa This novel multimodal clinical examination protocol describes and correlates structural functional and metabolic aspects during natural disease development
Test-retest variability of new measurements as well as correlations of the structural functional and metabolic changes will be defined to be able to define well-suited readouts for safety and efficacy of future treatment developments before they reach the clinical phase
Test-retest variability of new measurements as well as correlations of the structural functional and metabolic changes will be defined to be able to define well-suited readouts for safety and efficacy of future treatment developments before they reach the clinical phase
Detailed Description:
Hereditary retinal diseases such as retinitis pigmentosa are rare genetic diagnoses of the retina with chronic lifelong progression often leading to blindness Progression varies greatly between individuals PDE6A PDE6B and RHO related retinitis pigmentosa phenotypes are typical retinal dystrophies with early onset of rod dysfunctions and a rather slow progression of the cone dysfunction with progression to complete blindness in later adulthood
Classical gene therapy could improve the function of the rods if successful although the changes may only be very small and need to be measured using sensitive methods In contrast neuroprotective therapeutic approaches could slow down these slow processes even further which would be extremely difficult to prove as clinical efficacy in a future clinical trial with very individual courses
In order to have clinical examination methods in the future that can prove the safety and efficacy of neuroprotective approaches very sensitive examination methods are needed whose test variability is also known In addition a neuroprotective treatment method can positively influence the metabolic state of the retina which in contrast to slowing down a slow degeneration process would be a demonstrable effect if the metabolism of the retina can be examined in a clinically relevant way
For these reasons the investigators will focus on the above-mentioned genotypes of retinitis pigmentosa in a non-interventional study in order to collect and correlate structural functional and metabolic examinations of the retina
Classical gene therapy could improve the function of the rods if successful although the changes may only be very small and need to be measured using sensitive methods In contrast neuroprotective therapeutic approaches could slow down these slow processes even further which would be extremely difficult to prove as clinical efficacy in a future clinical trial with very individual courses
In order to have clinical examination methods in the future that can prove the safety and efficacy of neuroprotective approaches very sensitive examination methods are needed whose test variability is also known In addition a neuroprotective treatment method can positively influence the metabolic state of the retina which in contrast to slowing down a slow degeneration process would be a demonstrable effect if the metabolism of the retina can be examined in a clinically relevant way
For these reasons the investigators will focus on the above-mentioned genotypes of retinitis pigmentosa in a non-interventional study in order to collect and correlate structural functional and metabolic examinations of the retina
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None