Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study

Mol Ther. 2014 Jan;22(1):219-25. doi: 10.1038/mt.2013.155. Epub 2013 Jul 8.


Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant genetic disease mainly characterized by ptosis and dysphagia. We conducted a phase I/IIa clinical study ( NCT00773227) using autologous myoblast transplantation following myotomy in adult OPMD patients. This study included 12 patients with clinical diagnosis of OPMD, indication for cricopharyngeal myotomy, and confirmed genetic diagnosis. The feasibility and safety end points of both autologous myoblast transplantation and the surgical procedure were assessed by videoendoscopy in addition to physical examinations. Potential therapeutic benefit was also assessed through videoendoscopy and videofluoroscopy of swallowing, quality of life score, dysphagia grade, and a drink test. Patients were injected with a median of 178 million myoblasts following myotomy. Short and long-term (2 years) safety and tolerability were observed in all the patients, with no adverse effects. There was an improvement in the quality of life score for all 12 patients, and no functional degradation in swallowing was observed for 10 patients. A cell dose-dependant improvement in swallowing was even observed in this study. This trial supports the hypothesis that a local injection of autologous myoblasts in the pharyngeal muscles is a safe and efficient procedure for OPMD patients.

Publication types

  • Clinical Trial, Phase I
  • Clinical Trial, Phase II
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Esophageal Sphincter, Upper / metabolism
  • Esophageal Sphincter, Upper / physiopathology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscular Dystrophy, Oculopharyngeal / diagnosis
  • Muscular Dystrophy, Oculopharyngeal / genetics
  • Muscular Dystrophy, Oculopharyngeal / therapy*
  • Myoblasts, Skeletal / transplantation*
  • Pharyngeal Muscles / metabolism
  • Pharyngeal Muscles / physiopathology
  • Pharyngeal Muscles / surgery
  • Transplantation, Autologous
  • Treatment Outcome

Associated data