Dutch researchers from University Medical Centre Utrecht and the Hubrecht Institute have made a breakthrough in stem cell research by successfully growing stem cells from adult human hearts into new heart muscle cells. For a long time, researchers thought that the adult heart contained no stem cells. However, recent studies have revealed the existence of a small pool of potential stem cells in the adult heart. In this latest study, principal investigator Professor Doevendans and his team succeeded in isolating some of these stem cells from the material left over from open-heart surgery.

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PTC Therapeutics has started an international pivotal trial of PTC124 in patients with Duchenne or Becker muscular dystrophy due to a nonsense mutation. The primary objective of this registration-directed Phase IIb trial is to demonstrate the efficacy of PTC124 as measured by improvements in the walking ability of patients with this progressive genetic disease. In this double-blind study, patients will be randomized to receive placebo, or one of two dose levels of PTC124, three times per day. Eligible patients will be boys with nonsense-mutation-mediated Duchenne or Becker muscular dystrophy (DMD/BMD) who are at least five years of age and are able to walk at least 75 meters or approximately 80 yards in six minutes. PTC expects to enroll a total of 165 patients at approximately 35 investigational sites; all study subjects will undergo 48 weeks of blinded treatment.

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Researchers at Cold Spring Harbor Laboratory (CSHL) and Isis Pharmaceuticals have devised a potential approach to treat the neuromuscular disease spinal muscular atrophy (SMA) caused by a deficiency in the survival of motor neuron protein (SMN) caused by a single gene mutation. SMA is a neurodegenerative disease of the motor neurons and results in progressive muscle weakness. It is also the leading hereditary cause of infant mortality. CSHL professor Dr. Adrian Krainer and his team have devised a method to stimulate cells to replenish the SMN protein by activating an existing, slightly modified copy of the mutant gene, survival of motor neuron 1, centromeric (SMN1).

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