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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

The New England journal of medicine, 2019-10, Vol.381 (17), p.1644-1652 [Peer Reviewed Journal]

Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;Copyright © 2019 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1813279 ;PMID: 31597037

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Title:
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Author: Kim, Jinkuk ; Hu, Chunguang ; Moufawad El Achkar, Christelle ; Black, Lauren E ; Douville, Julie ; Larson, Austin ; Pendergast, Mary K ; Goldkind, Sara F ; Lee, Eunjung A ; Kuniholm, Ashley ; Soucy, Aubrie ; Vaze, Jai ; Belur, Nandkishore R ; Fredriksen, Kristina ; Stojkovska, Iva ; Tsytsykova, Alla ; Armant, Myriam ; DiDonato, Renata L ; Choi, Jaejoon ; Cornelissen, Laura ; Pereira, Luis M ; Augustine, Erika F ; Genetti, Casie A ; Dies, Kira ; Barton, Brenda ; Williams, Lucinda ; Goodlett, Benjamin D ; Riley, Bobbie L ; Pasternak, Amy ; Berry, Emily R ; Pflock, Kelly A ; Chu, Stephen ; Reed, Chantal ; Tyndall, Kimberly ; Agrawal, Pankaj B ; Beggs, Alan H ; Grant, P. Ellen ; Urion, David K ; Snyder, Richard O ; Waisbren, Susan E ; Poduri, Annapurna ; Park, Peter J ; Patterson, Al ; Biffi, Alessandra ; Mazzulli, Joseph R ; Bodamer, Olaf ; Berde, Charles B ; Yu, Timothy W
Subjects: Age ; Antisense oligonucleotides ; Biopsy ; Cell lines ; Child ; Child Development ; Consent ; Diagnosis ; Disease ; Drug development ; Drug Discovery ; Drugs, Investigational - therapeutic use ; EEG ; Electroencephalography ; Families & family life ; FDA approval ; Female ; Fibroblasts ; Genomes ; Genomics ; Hospitals ; Humans ; Laboratories ; Membrane Transport Proteins - genetics ; Mutagenesis, Insertional ; Mutation ; Neuronal Ceroid-Lipofuscinoses - drug therapy ; Neuronal Ceroid-Lipofuscinoses - genetics ; Neuropsychological Tests ; NMR ; Nuclear magnetic resonance ; Oligonucleotides, Antisense - therapeutic use ; Parents & parenting ; Patients ; Precision Medicine ; Rare diseases ; Rare Diseases - drug therapy ; RNA, Messenger ; Seizures ; Seizures - diagnosis ; Seizures - drug therapy ; Skin - pathology ; Whole Genome Sequencing
Is Part Of: The New England journal of medicine, 2019-10, Vol.381 (17), p.1644-1652
Description: A child with a neuronal ceroid lipofuscinosis was found to carry loss-of-function mutations in the gene MFSD8 ( CLN7 ). A year after genetic diagnosis, the child began treatment with an oligonucleotide drug that was designed to correct the aberrant pre–messenger RNA splicing caused by one of these mutations.
Publisher: United States: Massachusetts Medical Society
Language: English
Identifier: ISSN: 0028-4793
EISSN: 1533-4406
DOI: 10.1056/NEJMoa1813279
PMID: 31597037
Source: ProQuest One Psychology
MEDLINE
ProQuest Central

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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;Copyright © 2019 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1813279 ;PMID: 31597037

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