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Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. The muscles are predominantly affected, however, any organ can be affected in mitochondrial diseases. The prevalence and natural history of cardiovascular disease in adult patients with respiratory chain disease (RCD) is poorly characterized. In this article, researchers from The Heart Hospital, University College London, determined the frequency and natural history of cardiac disease in 32 adults with primary RCD.

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Limb-girdle muscular dystrophy type 2E (LGMD2E), also known as beta-sarcoglycanopathy, is an autosomal recessive muscle disorder. The clinical presentation includes limb weakness with proximal muscles affected more than distal and a progressive clinical course with loss of independent ambulation in the second decade and elevated creatine kinase 3–22 times normal. Currently, no therapeutic options have been suggested for patients with LGMD 2E. Corticosteroid treatments with prednisone or deflazacort have been shown to slow disease progression in other diseases of dystrophin complex such as Duchenne muscular dystrophy (DMD).

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Généthon, the not-for-profit biotherapy laboratory operated by the French Muscular Dystrophy Association (AFM) with funding from the country's annual Telethon*, has just obtained approval from the French and British health authorities for a Phase I/II clinical trial of gene therapy for a rare immunodeficiency, Wiskott-Aldrich syndrome (WAS). The Généthon-sponsored trial will be performed both in France (led by Professors Alain Fischer and Marina Cavazzana-Calvo at Necker Children's Hospital, Paris) and in the UK (led by Professor Adrian Thrasher at London's Great Ormond Street Hospital). With just a few days to go to Rare Disease Day 2010 (February 28th, with a focus on "Bridging Patients and Researchers”), initiation of this trial marks a new step towards curing rare diseases with innovative biotherapies.

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