Clinical Trial: THOR - Tübingen Choroideremia Gene Therapy Trial
Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional
Official Title: THOR - Tübingen Choroideremia Gene Therapy Trial Open Label Phase 2 Clinical Trial Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)
Brief Summary: An open label monocentric phase II trial in adult males with a clinical phenotype of choroideremia and a confirmed molecular diagnosis of a null mutation in the gene encoding REP1 to assess the anatomical and functional outcomes, as well as the safety of a single subretinal injection of rAAV2.REP1 in 6 subjects with genetically confirmed choroideremia for up to 24 months.
Detailed Summary:
Study name: THOR - Tübingen Choroideremia gene therapy trial open label Phase 2 clinical trial using an adeno-associated viral vector (AAV2) encoding Rab-escort protein 1 (REP1)
Phase: Phase II
Indication: Adult males with a clinical phenotype of choroideremia and a confirmed molecular diagnosis of a null mutation in the gene encoding REP1
Aim of study: To assess the anatomical and functional outcomes, as well as the safety of a single subretinal injection of rAAV2.REP1 in subjects with genetically confirmed choroideremia for up to 24 months.
Primary Endpoint: Change from baseline in best corrected visual acuity in treated eye, compared to untreated control eye
Study design: Open label monocenter study
Study population: 6 male adults affected by choroideremia
Inclusion Criteria
- Participant is willing and able to give informed consent for participation in the study.
- Male aged 18 years or above.
- Genetically confirmed diagnosis of choroideremia. Patients without a confirmed mutation in the CHM gene, but who have the clinical phenotype typical of choroideremia can only be enrolled if they meet all the following three criteria: (i) family history consistent with X-linked inheritance, (ii) absent REP1 protein on Western blot of a blood sample and, (iii) normal RPE65 gene on sequencing.
- Active disease visible clinically within the macula region
- Best-corrected vi
Sponsor: STZ eyetrial
Current Primary Outcome: best corrected visual acuity in treated eye [ Time Frame: up to 24 months after vector administration ]
Change from baseline in best corrected visual acuity in treated eye, compared to untreated control eye up to 24 months after vector administration
Original Primary Outcome: Same as current
Current Secondary Outcome:
- Absence of vector-related adverse reactions [ Time Frame: 24 months after vector administration ]
- fundus autofluorescence analysis [ Time Frame: 24 months after vector administration ]improved retinal anatomy in treated eye compared to the untreated control eye 24 months after vector administration
- central visual field using microperimetry readings [ Time Frame: 24 months after vector administration ]improved visual function in treated eye compared to the untreated control eye 24 months after vector administration
- contrast sensitivity [ Time Frame: 24 months after vector administration ]improved visual function other than best corrected visual acuity in treated eye compared to the untreated control eye 24 months after vector administration (scale)
- colour vision [ Time Frame: 24 months after vector administration ]improved visual function other than best corrected visual acuity in treated eye compared to the untreated control eye 24 months after vector administration (physiological parameter)
Original Secondary Outcome:
- Absence of vector-related adverse reactions [ Time Frame: 24 months after vector administration ]
- fundus autofluorescence analysis [ Time Frame: 24 months after vector administration ]improved retinal anatomy in treated eye compared to the untreated control eye 24 months after vector administration
- central visual field using microperimetry readings [ Time Frame: 24 months after vector administration ]improved visual function in treated eye compared to the untreated control eye 24 months after vector administration
- contrast sensitivity [ Time Frame: 24 months after vector administration ]improved visual function other than best corrected visual acuity in treated eye compared to the untreated control eye 24 months after vector administration
- colour vision [ Time Frame: 24 months after vector administration ]improved visual function other than best corrected visual acuity in treated eye compared to the untreated control eye 24 months after vector administration
Information By: STZ eyetrial
Dates:
Date Received: January 19, 2016
Date Started: January 2016
Date Completion: March 2018
Last Updated: April 10, 2017
Last Verified: April 2017
