Matches in Ghent University Academic Bibliography for { <https://biblio.ugent.be/publication/01J4M1SM7EKVXZKKBFXJSFMKD3> ?p ?o. }
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- 01J4M1SM7EKVXZKKBFXJSFMKD3 classification C3.
- 01J4M1SM7EKVXZKKBFXJSFMKD3 date "2017".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 language "eng".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 type conference.
- 01J4M1SM7EKVXZKKBFXJSFMKD3 subject "Medicine and Health Sciences".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 issn "0736-8046".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 issn "1525-1470".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 issue "Supplement 2".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 presentedAt urn:uuid:f2f1e490-579b-48fb-b113-4e3c0c3f39ee.
- 01J4M1SM7EKVXZKKBFXJSFMKD3 volume "34".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 abstract "Duchenne's muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy, caused by mutations in the DMD gene that disrupt the translational reading frame or create a premature stop codon. Progressive muscle weakness starts early in life and results in the loss of ambulation around the age of 10, and causes severe life threatening respiratory and cardiac problems around the age of 20 years, despite treatment with steroids. One recent strategy to improve the outcome of these patients is exon skipping therapy. Small antisense oligonucleotides (AONs) are designed to alter pre-mRNA splicing. Specific exons in the dystrophin mRNA are removed during the splicing process resulting in a truncated partially functional dystrophin protein. The subcutaneous weekly administration of a 2'-O-methyl phosphorothioate AON targeting exon 51 of the DMD gene (Drisapersen) has been investigated in a large clinical program. This abstract reports on the long term injection site reactions seen in 7 children treated in the phase I/II study, followed by a 188 week open label study and in 5/7 later intravenous administrations until 2016. Severe ISR appeared in all subjects. They followed a consistent pattern, although the time to onset of each symptom varied from patient to patient. Local reactions started with erythema and hyperpigmentation, first seen after 1-3 months, followed by induration after 8- 13 months, which became sclerotic after 1-2 years. Lipo atrophy, ulcers and large SC calcified plaques were eventually seen inmost subjects. These reactions even progressed after stopping administration or changing to intravenous administration. The healing process of ulcerations, often triggered by minor trauma, was particularly slow and protracted, taking months to achieve closure of the wound. (5/7). The pathogenetic mechanism of the ISRsmust still be discovered, although it seems probable that the innate immune system is involved.".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 author F13FF90C-0E1B-11E9-8068-85FF5607D3EF.
- 01J4M1SM7EKVXZKKBFXJSFMKD3 dateCreated "2024-08-06T14:34:22Z".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 dateModified "2024-11-28T00:10:22Z".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 name "Cutaneous side effects of exon skipping therapy with antisense oligonucleotide drisapersen in duchenne's muscular dystrophy (DMD)".
- 01J4M1SM7EKVXZKKBFXJSFMKD3 pagination urn:uuid:425fa6b3-e607-4624-8799-ed1dc90b78c0.
- 01J4M1SM7EKVXZKKBFXJSFMKD3 sameAs LU-01J4M1SM7EKVXZKKBFXJSFMKD3.
- 01J4M1SM7EKVXZKKBFXJSFMKD3 sourceOrganization urn:uuid:24ab7129-f60d-496e-9f44-852bec7c16f4.
- 01J4M1SM7EKVXZKKBFXJSFMKD3 type C3.