Duchenne muscular dystrophy (DMD) is a lethal X-linked disease, caused by mutations of the dystrophin gene leading to progressive muscle degeneration and weakness.
We developed a novel DT-DEC01 therapy of Dystrophin Expressing Chimeric (DEC) cells created by ex-vivo fusion of human myoblasts derived from normal (allogeneic) donor and DMD-affected (autologous) patient.
This study determined preliminary safety and efficacy following administration of DT-DEC01 to DMD patients.
Pilot, open label study. Intraosseous (systemic) administration of a single dose of DT-DEC01 therapy (2×10^6 cells / kg) in 5-18 years old boys (n = 3) with DMD (Bioethics Committee approval no.185/2022).
Adverse event (AE) and serious adverse event (SAE) were assessed. Efficacy was assessed by: 6MWT, NSAA, PUL, grip strength, electromyography (EMG) – Motor Unit Potentials (MUP) and step count.
Results: Average follow up was 9.6 months (range 7-12). No therapy related AE or SAE were reported during follow up. Efficacy assessments revealed:
Patient #1 (7-year-old ambulatory Deletion Exon 3-12): Improved 6MWD +9%, NSAA score +10%, 10-meter run +14%, maintained PUL test (100%), improved grip strength +40%,
EMG reveled increased MUP duration in: biceps +91%; deltoideus +28%, gastrocnemius +30%, rectus femoris +40%, increased step tracker activity.
Patient #2 (15-year-old non-ambulatory Deletion Exon 48-50: Improved PUL +15% compared to baseline. Improved grip strength in both hands +25%; improved biceps +59% and triceps +70% strength. EMG reveled: increased MUP duration in: biceps +140%, deltoideus +65%, gastrocnemius +30%, MUP maintained in rectus femoris.
Patient #3 (6-year-old nonsense mutation): Improved 6MWD +16%, NSAA score +8%, time raise from floor +5%, PUL test +22%. EMG reveled: increased MUP duration in: biceps +6%, rectus femoris +29%, gastrocnemius +5%, increased steps tracker activity.
This study confirmed safety and preliminary efficacy of a single dose of DT-DEC01 therapy up to 12-months after intraosseous administration to both ambulatory and non-ambulatory DMD patients.