LIMB GIRDLE MUSCULAR DYSTROPHIES: P.140 Systemic gene transfer with rAAVrh74.MHCK7.SGCB increased Beta-sarcoglycan expression in patients with Limb girdle muscular dystrophy type 2E (LGMD2E)

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We present findings of a phase 1 multiple ascending-dose gene transfer trial of ≤9 patients with LGMD2E (β-sarcoglycan [SGCB] deficiency) who received rAAVrh74.MHCK7.SGCB (NCT03652259). Participants: age 4-15y, SGCB mutation (both alleles), no rAAVrh74 antibodies, >40% on 100-meter timed test. Cohort 1 (n=3) received single IV infusion of 5 × 1013 vg/kg rAAVrh74.MHCK7.SGCB. For all patients, prednisone 1 mg/kg/day was initiated 1d before gene delivery (30-d taper). Primary endpoints: ≥20% SGCB-positive fibers (Day 60 muscle biopsy); safety.