Advances in emerging therapeutics for oculopharyngeal muscular dystrophy

Introduction: Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disease affecting approximately 1:100,000 people in Europe but has a significantly higher incidence in some countries such as Canada, Mexico, and among the Bukharan Jews, due to original founder effects. No cure is available for OPMD, and only surgical intervention provides temporary alleviation from the symptoms of the disease. Areas covered: Here, authors discuss the most promising emerging genetic and pharmaceutical therapeutics for OPMD currently in preclinical and clinical development. Expert opinion: At present, some very promising pharmacological treatments targeting aggregates formation are in preclinical development for OPMD with systemic delivery of trehalose currently in clinical trial. While reducing intranuclear inclusions has great potential on attenuating the symptoms, the genetic defect causing the disease is not directly targeted. The development of a gene therapy approach for OPMD based on local intramuscular delivery of adeno-associated viral vectors will hopefully provide significant safe and long-term improvement of the disease.