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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.
Full description
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
Exclusion Criteria
Patient number: 6
Treatment: Each participant will receive a single treatment of the rAAV2.REP1 vector (0.1ml containing 1011 AAV2 genome particles) administered by subretinal injection during a vitrectomy operation. No placebo will be used. ln order to minimize selection bias both eyes are randomized to either treatment or control.
Main criteria: Primary endpoint: Change from baseline in best corrected visual acuity in treated eye, compared to untreated control eye up to 24 months after vector administration Secondary endpoints: Absence of vector related adverse reactions 24 months after vector administration. Demonstration of improved retinal anatomy and/or visual function other than best corrected visual acuity in treated eye compared to the untreated control eye 24 months after vector administration.
Statistical methods:
Summary statistics will be presented for both eyes (Treated Eye versus Control Eye groups). No formal statistical comparison will be performed (no p-value will be computed). For categorical/binary data, the number and proportion of patients in each category will be presented with its 95% Confidence Interval (CI). For continuous data, mean (and its 95% CI) and Standard Deviation (SD) will be presented.
The primary outcome measure will be the proportion of patients with a relative change from baseline of > 5 in ETDRS letters (treated vs. untreated eye, change from BL). At each time point, the change from baseline in ETDRS letters will be computed for each eye. The mean change from baseline in ETDRS letters will be presented for both the treated eye and the control eye groups.
At each time point, the change from baseline and the percentage change from baseline in the area of autofluoresence will be computed for each eye and their mean will be presented for both the treated eye and the control eye groups.
With regards to microperimetry, at each time point, the change from baseline in mean sensitivity will be computed for each eye. The mean change from baseline in mean sensitivity will be presented for both the treated eye and the control eye groups.
Adverse events will be listed. Other Investigator Sponsored Studies are expected to be run with a similar protocol for the same indication and with the same intervention. A meta-analysis on the Investigator Sponsored studies is planned. A separate Statistical Analysis Plan describing the details of the meta-analysis will be developed.
Timetable:
Planned trial period: 24 month Follow-up duration: 36 month
The end of trial is the date on which the last treated patient completes the tests of their planned close-out visit.
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6 participants in 1 patient group
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Data sourced from clinicaltrials.gov
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