Spinal muscular atrophy Type 1 (SMA1) is devastating monogenic neurodegenerative disease characterized by lower motor neuron loss. Motor neuron loss results in severe swallowing and breathing dysfunction that, without nutritional and ventilatory support, leads to malnutrition, chronic aspiration, and ultimately death via respiratory failure. According to SMA1 natural history, most SMA1 patients will require nutritional and ventilatory support. Here we report end-of-study data of SMA1 infants treated with the proposed therapeutic dose of AVXS-101, a gene replacement therapy that crosses the blood-brain-barrier.

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