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

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

Author information

1
1] Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Assistance publique-Hôpitaux de Paris (APHP), Hôpital Tenon, Paris, France [2] Université Paris VI Pierre et Marie Curie, Paris, France [3] Thérapie des maladies du muscle strié/ Institut de Myologie, UM76, INSERM U974, Groupe hospitalier Pitié-Salpétrière, Paris, France [4] CNRS UMR 7215, Paris, France.
2
1] Université Paris VI Pierre et Marie Curie, Paris, France [2] Thérapie des maladies du muscle strié/ Institut de Myologie, UM76, INSERM U974, Groupe hospitalier Pitié-Salpétrière, Paris, France [3] CNRS UMR 7215, Paris, France.
3
Unité de Thérapie Cellulaire et CIC-BT501, Hôpital Saint Louis, Assistance publique-Hôpitaux de Paris (APHP), Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
4
Amiens Hospital, Hematology Department, Avenue René Laennec, 80054 Amiens Cedex 1, France.
5
Service de Neurologie, Consultation de Pathologies Neuromusculaires, Institut de myologie, Hôpital Pitié Salpêtrière, Faculté de Médecine & Université Paris VI Pierre et Marie Curie, Assistance publique-Hôpitaux de Paris (APHP), Paris, France.
6
CHU de Caen, Centre de Compétences des Pathologies Neuro-musculaires, Service de Médecine Physique et Réadaptation, Avenue de la Côte de Nacre, CS 30001, 14033 CAEN CEDEX 9, France et INSERM, U 1075 COMETE, France.

Abstract

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 (ClinicalTrials.gov 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.

PMID:
23831596
PMCID:
PMC3978797
DOI:
10.1038/mt.2013.155
[Indexed for MEDLINE]
Free PMC Article

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