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  • Duchenne
  • Aims: An open-ended multi-center, national Egyptian study to collect and analyze data for children with Neuromuscular Diseases (NMD) inherited NMD (spinal muscular atrophy (SMA), Duchenne/Becker and congenital muscular dystrophies (DMD/BMD, CMD), congenital myopathies, and congenital myasthenic syndromes) and acquired NMD (neuropathies, myasthenia gravis and myositis). (clinicaltrials.gov)
  • dystrophies
  • However they cannot be used to treat muscular dystrophies because the stem cells themselves are affected in individuals with these conditions. (ucl.ac.uk)
  • This is the first study to demonstrate the functional and stable integration of AFS cells into skeletal muscle, highlighting their value as a cell source for the treatment of muscular dystrophies. (ucl.ac.uk)
  • clinical
  • OTCQX: RHHBY), announced today interim clinical data from the dose-finding parts of the pivotal FIREFISH and SUNFISH studies investigating risdiplam (RG7916) in spinal muscular atrophy (SMA). (drugs.com)
  • CAMBRIDGE, Mass. & CARLSBAD, Calif.--( BUSINESS WIRE )--New data from the clinical program for nusinersen, an investigational treatment for spinal muscular atrophy (SMA), were presented by Biogen (NASDAQ: BIIB) and Ionis Pharmaceuticals (NASDAQ: IONS) in the late-breaking session at the 2016 World Muscle Society Congress in Granada, Spain. (businesswire.com)
  • diseases
  • We now need to perform more in-depth studies with human AFS cells in mouse models to see if it is viable to use cells derived from the amniotic fluid to treat diseases affecting skeletal muscle tissue. (ucl.ac.uk)
  • We are developing muscle biology-directed potential medicines to improve the healthspan of people with devastating diseases of impaired muscle function and conditions of muscle weakness associated with aging. (cytokinetics.com)
  • therapeutics
  • While there has been meaningful progress in the development of therapeutics that address the underlying SMA genetic defect, there continues to be a high unmet need for therapeutics that directly address muscle atrophy. (scholarrock.com)
  • congenital
  • In contrast to MD, the term myopathy generally refers to acquired or congenital muscle disorders that typically do not demonstrate ongoing cycles of degeneration/regeneration, but still result in weakness and disability due to loss of contractile function. (medscape.com)
  • New York native Robert A Rodriguez was born with a congenital birth defect called "Fibula Hemophilia" in which he was born with only two toes and missing muscles and ligaments in his right leg. (gigmasters.com)
  • survival
  • De Coppi's team has demonstrated that intravenous transplantation of amniotic fluid stem (AFS) cells enhances the muscle strength and improves the survival rate of the affected animals. (ucl.ac.uk)
  • Progress in understanding the genetic basis and pathophysiology of spinal muscular atrophy (SMA), along with continuous efforts in finding a way to increase survival motor neuron (SMN) protein levels have resulted in several strategies that have been proposed as potential directions for efficient drug development. (degruyter.com)
  • fibers
  • We are encouraged by the preclinical data emerging on SRK-015, including the effects upon fast-twitch muscle fibers that are particularly relevant for SMA as well as its selectivity profile, which may be very important when considering chronic therapy in children," said Karen S. Chen, PhD, Chief Scientific Officer of the SMA Foundation and a co-author of the study being presented at the Cure SMA Annual Conference. (scholarrock.com)
  • a small, local, involuntary muscle contraction (twitching) visible under the skin arising from the spontaneous discharge of a bundle of skeletal muscle fibers. (rightdiagnosis.com)
  • limb
  • Fasciculations can often by visualized and take the form of a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. (rightdiagnosis.com)