DMD : Exon-Skipping Eteplirsen 48 주에서 결과가 매우 좋다.

 • Sarepta 치료의 실험 엑손 - 건너 뛰는 약물 eteplirsen의 48 주 위상 2B 시험에서 결과는 dystrophin 생산과 특정 유전 변이에 의해 발생 Duchenne 근육질 영양 장애의 남자에서 도보 능력 모두에서 상당한 증가를 보여 주었다.
• "위약 / 지연 치료" 그룹은 같은 기간 동안 224 피트에서 능력을 도보에 실패하면서  소년들이 69 피트에 의해 6 분 도보 수있는 거리를 증가했다.
• eteplirsen의 48 주받은 사람은 정상적인 47 %까지 dystrophin - 긍정적 인 근육 섬유에 통계적으로 의미있는 증가를 보여 주었다.근육 단백질 dystrophin의 부족은 DMD의 기본 원인입니다.
•약물에 대한  더 불리한 반응이보고되지 않았습니다.
• "eteplirsen은 특정 유전자 변이와 DMD 환자를 타겟으로하는 반면, 제가 관련 유전자 변이를 가진 모든 DMD 환자에 대한 의미가 명확 분명하다고 생각한다고 "연구의 주요 수사관이며 유전자 치료를위한 센터의 이사 제리 Mendell"은 말했다. 전국 어린이 병원에서와 근육질 영양 장애. MDA는 eteplirsen 시험에 대한 보조 자금으로 Mendell를 제공했습니다.

원문 나가용~

The biopharmaceutical company Sarepta Therapeutics announced today that its experimental exon-skipping compound, eteplirsen, resulted in an increase in dystrophin and "significant clinical benefit" on the six-minute walk test in a phase 2b trial in boys with Duchenne muscular dystrophy (DMD) caused by specific mutations.

In an Oct. 3, 2012, press release, the company said that trial participants who received weekly intravenous infusions of eteplirsen for 48 weeks walked an average of 89.4 meters (293 feet) farther in six minutes than "placebo/delayed treatment" trial participants who received placebo infusions for the first 24 weeks and then eteplirsen for 24 weeks in the open-label extension study.

Participants who received 48 weeks of eteplirsen demonstrated an increase of 21 meters (about 69 feet) in distance walked compared to their baseline test, while those who received placebo/delayed treatment showed a decline of 68.4 meters (224.4 feet) compared to baseline.

Infusions of eteplirsen for 48 weeks resulted in a statistically significant increase in dystrophin-positive muscle fibers, to 47 percent of normal. The placebo/delayed treatment group also showed a statistically significant increase in dystrophin-positive muscle fibers, to 38.3 percent of normal, the company reported. A lack of the muscle protein dystrophin is the underlying cause of DMD.

No treatment-associated adverse events were reported.

Eteplirsen is designed to skip exon 51 of the dystrophin gene, and potentially could benefit about 13 percent of boys with DMD.

"These data represent a significant milestone and a defining moment of progress and hope for patients with DMD and their families, as well as for those of us in the scientific community who have been pursuing potential treatments for this devastating and deadly disease for decades," said Jerry Mendell, principal investigator of the study, and director of the Centers for Gene Therapy and Muscular Dystrophy at Nationwide Children's Hospital.

"While eteplirsen is targeted to DMD patients with a specific genetic mutation, I think the implications for all DMD patients with related genetic mutations are clearly evident."

Sarepta's latest announcement follows 36-week trial results announced on July 24, 2012, which showed that participants treated with a high dose of eteplirsen for 36 weeks were able to walk 69.4 meters (227.7 feet) farther on a six-minute walk test compared to the placebo/delayed treatment group.

MDA has been supporting basic research in exon skipping as a strategy for treating DMD since the 1990s. The strategy coaxes cells to "skip," or ignore, segments (exons) of a gene and piece together the remaining instructions in a way that allows production of a functional protein, such as dystrophin.

The Association gave supplemental support for this eteplirsen trial through a grant to Mendell, a longtime MDA research grantee and co-director of the MDA clinic at Nationwide.

MDA will publish a more detailed analysis of the eteplirsen results later today.

출처:http://quest.mda.org/news/dmd-eteplirsen-results-very-encouraging-48-weeks