Autologous transplantation of bone marrow-derived CD133+ stem cells in facioscapulohumeral dystrophy

INTRODUCTION Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy, exhibits autosomal dominant inheritance and has no cure. FSHD typically arises with a reduction of facial and shoulder girdle muscle mass. The disease may extend to abdominal and pelvic girdle muscles impairing the ability to walk. The aim of this open pilot study was to establish the profile of tolerability and clinical response of autologous bone marrow-derived CD133+ stem cells in a cohort of patients affected by facioscapulohumeral muscular dystrophy (FSHD). METHODS Thirteen patients between 30 and 56 years of age were included in this study and two of them treated with two serial infusions of autologous bone marrow-derived CD133+ stem cells and followed for 1 year. All patients were longitudinally assessed using the 6 minutes walking test (6MWT) and isometric/isokinetic quantitative muscle test (QMT) 6 months before treatment started (T0), at baseline (T1) and 6 and 12 months later. RESULTS In treated patients there was no significant change in function between T0 and T1 assessments, but the quantitative scores recorded after 6 and 12 months of treatment were significantly higher than those recorded at baseline (p = 0.006). Moreover, the treatment is related to a gain of muscle force unobserved in untreated FSHD patients. CONCLUSIONS Our results suggest that bone marrow-derived CD133+ stem cells may be beneficial to facioscapulohumeral dystrophic patients without producing any major side effect. Larger prospective randomized, double-blind, placebo controlled trials are needed to confirm these preliminary findings.