Purpose: Duchenne muscular dystrophy (DMD) is an X-linked recessive pediatric disorder that ultimately leads to progressive muscle degeneration. It has been known that cell-based therapies were used to promote muscle regeneration. The main purpose of this study was to investigate the effects of allogeneic Wharton jelly-derived mesenchymal stem cells therapy in Duchenne muscular dystrophy.

Patients and methods: Four ambulatory and five nonambulatory male patients were included in this study. Real time PCR and immunohistochemical analysis were used  for quantitaive dystrophin gene expression. The fluorescent in situ hybridization method was assesed for detection of chimerism and donor–recipient fusinon compatibility. Complement dependent lymphocytotoxic crossmatch test and detection of panel reactive antigen were performed. All patients were treated with 2 × 106 cells/kg dose of allogeneic Wharton jelly-derived mesenchymal stem cells via intra-arterial and intramuscular multiple locak administration. Before and after treatment, all patients followup tests, including respiratory function tests, cardiac measurements with ejection fraction, clinical scale tests and quantitaive muscle strength measurement.

Results: Increased myoblastic signal intensity was noted in T1 weighted MRI of the  vastus intermedius muscle in one patient. Chimerism effects were  detected in 6.7 % and fused cells were noted in 3% in all muscle biopsies by FISH analysis. Dystrophin gene expressions were noted in post-treatment biopsies by using real time qPCR and immunoctychemistry staining.  Significant corroletions were noted between improved pulmonary function test and dystrophin gene expression in post-treatment muscle biopsies During clinical trial, one of the  pediatric patients  developed cardiac insufficiency and he was treated with allogenic stem cell by using intracoronal microcatheter angiography.

Conclusion: In our pediatric clinical trial,  phase I / II study, we have been able to show quantitative increased dystrophin protein level in muscle bıopsies after stem cell therapy,  by using real time PCR method. Our immunocytochemistry staining also support these findings as well. In this clinical study, we have important steps achieved first time in pediatric patents with duchenne muscular dystrophy who were treated with stem cell. These are the first in pediatric based clinical trials.

Keywords: Stem cell, DMD, Therapy, Pediatrics