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  • SPINRAZA
  • Excitingly, SMA has recently moved into a therapeutic era, with an approved SMN genetargeted therapy (nusinersen/Spinraza™) that improves many aspects of disease, including motor function and survival. (findaphd.com)
  • congenital
  • Differential diagnoses include amyotrophic lateral sclerosis, congenital muscular dystrophies, congenital myopathies, primary lateral sclerosis, myasthenia gravis, and carbohydrate metabolism disorders (see these terms). (nih.gov)
  • gene
  • SILVER SPRING, Md. , May 24, 2019 /PRNewswire/ -- The U.S. Food and Drug Administration today approved Zolgensma (onasemnogene abeparvovec-xioi), the first gene therapy approved to treat children less than two years of age with spinal muscular atrophy (SMA), the most severe form of SMA and a leading genetic cause of infant mortality. (prnewswire.com)
  • Today's approval marks another milestone in the transformational power of gene and cell therapies to treat a wide range of diseases,' said Acting FDA Commissioner Ned Sharpless , M.D. 'With each new approval, we see this exciting area of science continue to move beyond the concept phase into reality. (prnewswire.com)
  • Global organizations, work to raise awareness on such a rare disease that on 1 per 10,000 individuals, and of which one of every 50 persons are carriers of the gene that causes the disease. (discountmedicalsupplies.com)
  • Kennedy's disease is classed as an X-linked condition, which is caused by a genetic mutation in a gene responsible for producing the protein known as AR (androgen receptor). (medic8.com)
  • Normally, a person has 10 sequences of CAG in their DNA on the AR gene (this relates to cytosine, adenine and guarine), but in people with Kennedy's disease, there are more than 36 sequences. (medic8.com)
  • As a result of this, only males are affected by Kennedy's disease, even when females carry the defective gene. (medic8.com)
  • An important gene associated with Spinal Muscular Atrophy, Distal, X-Linked 3 is ATP7A (ATPase Copper Transporting Alpha). (malacards.org)
  • Therapeutics
  • CHDI Foundation has teamed up with PTC Therapeutics to try to advance PTC's work on small-molecule compounds that can reduce the production of huntingtin, the protein responsible for Huntington's disease. (huntingtonsdiseasenews.com)
  • respiratory
  • Most children with this disease do not survive past early childhood due to respiratory failure' said Peter Marks , M.D., Ph.D., director of the FDA's Center for Biologics Evaluation and Research. (prnewswire.com)
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. (mendelian.co)
  • mild
  • SMA screening does not approach the cost-effective range ($50-100,000/QALY) until the cost of severe disease is over $7 million or the cost of the mild disease is over $17 million, both of which are more than 20 times the baseline estimates. (bio-medicine.org)
  • Neurological Disorders
  • More than a decade ago, the NIH's National Institute of Neurological Disorders and Stroke (NINDS) launched a special project to accelerate the translation of basic scientific discoveries into new treatments for a rare and often fatal disease. (nih.gov)
  • Diagnosis
  • Antenatal diagnosis must be easily proposed to families with a history of SMA to avoid the recurrence of this disease. (bmj.com)
  • progression
  • Disease progression, assessed with the 6-minute Walk Test. (clinicaltrials.gov)
  • Instead, SMNtargeted therapies are modifying the natural progression of the disease, leading to a need to develop a 'next-generation' of combinatorial therapies ("SMN-plus") for SMA. (findaphd.com)