block skipping 임상 3차!

dystrophin유전자의 엑손 51번을 건너뛰는 치료를 개발한 GlaxoSmithKline과 Prosensa 은 개발된 제품 GSK2402968이 미국이외의 나라에서 3단계 시험으로 이동되었다고 발표했으며 새로운 약물 이름을 "drisapersen"라고 지었습니다.

연구소는 마우스실험에서 이 제품이 엑손 45~55번까지의 블럭을 건너뛰고 안전하게 dystrophin을 복원에 효과가 있으며 강도를 개선하는 것을 확인했습니다. "block skipping"이라고 말하며 임상연구가 성공적일 시 DMD 환자의 인구의 큰부분을 치료할 수 있는 가능성이 있다고 설명하였습니다.

원문 나가요~

Exon skipping is an experimental therapeutic strategy in which regions — exons — of a gene are targeted and blocked ("skipped") by laboratory-designed molecules. The goal is that the remaining genetic instructions will lead to production of a shorter but still-functional protein.

Exon skipping for Duchenne muscular dystrophy (DMD) targets the dystrophin gene with the aim of producing functional dystrophin protein in muscle fibers.

Phase 3 trial of GSK drug completes enrollment

A phase 3 clinical trial of the experimental exon-skipping drug GSK2402968, conducted at 45 non-U.S. locations throughout the world, has completed enrolling participants, says its developer, GlaxoSmithKline, in an Aug. 10, 2012, email communication. The communication also said the study is expected to be completed in July 2013 and that results are expected in late 2013.

The drug targets exon 51 of the dystrophin gene and is designed to treat DMD caused by specific mutations.

For details, see A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects with Duchenne Muscular Dystrophy; or enter NCT01254019 in the search box at ClinicalTrials.gov.

In addition, GSK says it will now call GSK2402968 by the generic name drisapersen. A phase 2 trial is open in the United States. For details on the U.S. study, see A Clinical Study to Assess Two Doses of GSK2402968 in Subjects with Duchenne Muscular Dystrophy; or enter study number NCT01462292 in the search box at ClinicalTrials.gov.

'Block skipping' strategy shows promise in mice

Skipping a relatively large but possibly nonessential part of the instructions for the dystrophin gene in a mouse model of DMD appears to be a promising therapeutic lead.

People missing exons 45-55 of the dystrophin gene generally have very mild symptoms, leading researchers to conclude that the dystrophin protein they make, even though it's missing a rather large section, remains functional. (The mice used in these experiments lacked exon 52; the more commonly used DMD mouse model has a mutation in exon 23.)

Yoshitsugu Aoki at the National Institute of Neuroscience in Tokyo, and colleagues, found that systemic injections of 10 different exon-skipping compounds, targeting exons 45-55 of the dystrophin gene, led to production of up to 15 percent of the normal level of dystrophin protein in skeletal muscles.

The dystrophin was apparently functional, even though it was considerably shorter than normal. It localized to the right place at the muscle-fiber membrane, increased strength in the animals, and improved the appearance of the muscle tissue, all without any detectable toxicity.

The investigators say their "block-skipping" approach, if confirmed to be safe and effective, has the potential to help a far greater percentage of people with DMD than current exon skipping compounds now in clinical trials, which target only exon 51. It's been estimated that about 10 percent of the DMD population could potentially be treated by skipping this particular exon.

Several of the investigators on this study have received MDA funding, although not for this particular project.

출처:http://quest.mda.org/news/dmd-research-briefs-exon-skipping-advances-trials-lab