Abstract
The case of Charlie Gard, an infant who was hospitalized in England due to a mitochondrial DNA depletion syndrome that led to an epileptic encephalomyopathy, was highly publicized. Though Charlie's parents lobbied for him to receive experimental nucleoside replacement therapy as a desperate effort to save him, this request was denied, and after a lengthy legal battle, he died in late July 2017. We discuss the ethical considerations and consequences of this case.
© 2018 American Academy of Neurology.
MeSH terms
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Cell Cycle Proteins / genetics
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Central Nervous System Agents / therapeutic use
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Clinical Decision-Making / ethics
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Epilepsy / genetics
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Epilepsy / therapy*
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Fatal Outcome
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Humans
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Infant
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Male
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Mitochondrial Diseases / genetics
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Mitochondrial Diseases / therapy*
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Muscular Diseases / genetics
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Muscular Diseases / therapy*
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Nucleosides / therapeutic use
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Ribonucleotide Reductases / genetics
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Withholding Treatment / ethics*
Substances
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Cell Cycle Proteins
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Central Nervous System Agents
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Nucleosides
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RRM2B protein, human
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Ribonucleotide Reductases
Supplementary concepts
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Mitochondrial DNA Depletion Syndrome, Myopathic Form