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The FDA-approved drug label for eteplirsen (EXONDYS 51) states that it is an antisense oligonucleotide indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping.
Excerpts from the eteplirsen (EXONDYS 51) drug label:
EXONDYS 51 is an antisense oligonucleotide indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping.
Eteplirsen is designed to bind to exon 51 of dystrophin pre-mRNA, resulting in exclusion of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 51 skipping.
EXONDYS 51 was evaluated in three clinical studies in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping.
For the complete drug label text with sections containing pharmacogenetic information highlighted, see the eteplirsen drug label.
*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.
Genes and/or phenotypes found in this label
- other, Indications & usage section, Adverse reactions section, Clinical studies section, Use in specific populations section
- source: U.S. Food and Drug Administration
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
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The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
|Alternate Names:||MRX85; muscular dystrophy, Duchenne and Becker types|
|Alternate Symbols:||BMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272|
|PharmGKB Accession Id:||PA27378|
|Cytogenetic Location:||chrX : p21.2 - p21.1|
|GP mRNA Boundary†:||chrX : 31137345 - 33357726|
|GP Gene Boundary†:||chrX : 31134345 - 33367726|
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.View on UCSC Browser
Publications related to DMD: 3
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||Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort. Clinical genetics. 2014. Broman M, et al.|
||Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia. Science (New York, N.Y.). 2008. Mullighan Charles G, et al.|
||Red-green color vision impairment in Duchenne muscular dystrophy. American journal of human genetics. 2007. Costa Marcelo Fernandes, et al.|
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