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Clinical Trial Report
Gene Therapy Trial Report
Summary
PDE6A Gene Therapy for Retinitis Pigmentosa
NCTID
NCT04611503
(View at clinicaltrials.gov)
Description
The PDE6A gene encodes a subunit of the rod phosphodiesterase. The loss of this enzyme function leads to a chronically elevated cGMP level which causes an increased calcium inflow into the cell and thereby the hyperactivation of cell death pathways. The goal of the PIGMENT study is to develop, produce and investigate a recombinant adeno-associated viral (AAV) gene transfer vector for the curative therapy of PDE6A-linked retinitis pigmentosa in patients, in order to counteract their disease progression and to stop further impairment of visual function. The vector is given with a single subretinal injection.
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Development Status
Active
Indication
Retinitis Pigmentosa
Disease Ontology Term
DOID:0110379
Compound Name
RAAV.hPDE6A
Sponsor
STZ eyetrial
Funder Type
Other
Recruitment Status
Active not recruiting
Enrollment Count
9
Results Posted
Not Available
Therapy Information
Target Gene/Variant
PDE6A
Therapy Type
Gene transfer
Therapy Route
In-vivo
Mechanism of Action
Functional gene replacement
Route of Administration
Subretinal
Drug Product Type
Viral vector
Target Tissue/Cell
Delivery System
Viral transduction
Vector Type
AAV8
Editor Type
none
Dose 1
1E9 vg
Dose 2
5E9 vg
Dose 3
1E10 vg
Dose 4
5E10 vg
Dose 5
Study Record Dates
Current Stage
Phase1, Phase2
Submit Date
2020-05-20
Completion Date
2027-07
Last Update
2024-04-18
Participation Criteria
Eligible Age
>=18 Years
Standard Ages
Adult, Older adult
Sexes Eligible for Study
ALL
Locations
No.of Trial Sites
1
Locations
Germany
Regulatory Information
Has US IND
False
FDA Designations
Recent Updates
Resources/Links
Preclinical Publications
Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43)
Gene Supplementation Rescues Rod Function and Preserves Photoreceptor and Retinal Morphology in Dogs, Leading the Way Toward Treating Human PDE6A-Retinitis Pigmentosa