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conferenceseries.com
October 26-27, 2016 Chicago, USA
Annual Congress on
Rare Diseases & Orphan Drugs
Volume 7, Issue 5 (Suppl) J Genet Syndr Gene Ther
ISSN: 2157-7412 JGSGT, an open access journal Rare Diseases 2016
October 26-27, 2016
On-going exon 53 skipping clinical trial for Duchenne muscular dystrophy
Shin'ichi Takeda
National Center of Neurology and Psychiatry, Japan
Duchenne muscular dystrophy (DMD) is the most common childhood genetic disease, affecting one among 3500-5000 newborn
boys, causing progressive muscle weakness, heart and respiratory failure and premature death. This disease is caused by the
mutations of the DMD gene and there is no cure exists for this disease but a number of promising new molecular therapies are
being intensively studied. Exon skipping by antisense oligonucleotides (AOs) is a novel method to restore the reading frame of the
mutated DMD gene and rescue dystrophin expression. We have reported that systemic delivery of AOs targeting exon 6 and 8 of
the canine DMD gene to CXMDJ, a dystrophin-deficient canine animal model, efficiently restored functional dystrophin proteins
at the sarcolemma of these dogs and improved phenotypes of affected dogs without serious adverse effects. We, then, optimized
AO sequences, which allow exon 53 skipping of the human DMD gene, together with Nippon Shinyaku Co. Ltd. After numbers of
toxicology study of the AOs, NS-065/NCNP-01, we proposed an early phase clinical trial of exon 53 skipping of DMD patients, which
was approved by Japanese Pharmaceutical and Medical Devices Agency (PMDA) and the trial, has been successfully carried as an
investigator-initiated trial in NCNP hospital. Following the excellent results of the early phase trial, phase I/II trial in Japan and phase
II trial in US are carrying by either Nippon Shinyaku Co. Ltd. or NS Pharma, Inc.
Biography
Shin’ichi Takeda is currently the Director General of National Institute of Neuroscience in the National Center of Neurology and Psychiatry (NCNP). He initially
trained as a Clinical Neurologist and received a PhD degree in Muscle Biology from Shinshu University, Graduate School in 1981 and has a long time laboratory
experience including Paris Pasteur Institute (1987-1992). He focused his research on development of molecular therapy of Duchenne muscular dystrophy (DMD),
since he came back from France and has gotten the position in NCNP in 1992. He has showed a proof of concept study of exon skipping in the colony of dystrophic
dogs that he established and he recently finished the early phase clinical trial of exon 53 skipping of the dystrophin gene among DMD patients in Japan as a PI. He
is working as an Associate Editor for review of J. Neuromuscular Diseases since 2013 and an Associate Editor ofAm. J. Pathology since 2014.
Shin'ichi Takeda, J Genet Syndr Gene Ther 2016, 7:5 (Suppl)