PARIS--(BUSINESS WIRE)--Genethon, a non-profit research organization and world leader in gene therapies for rare diseases, is marking World Duchenne Muscular Dystrophy Day on September 7, 2024, by reiterating its 35-year commitment to the families affected by Duchenne muscular dystrophy and its determination to offer patients a solution to overcome this fatal disease..

巴黎--（商业新闻短讯）--Genethon是一家非营利性研究组织，也是罕见疾病基因治疗的世界领导者，于2024年9月7日纪念世界杜兴氏肌营养不良症日，重申其对受杜兴氏肌营养不良症影响的家庭35年的承诺，并决心为患者提供克服这种致命疾病的解决方案。。

Genethon currently is developing a drug candidate that has demonstrated its efficacy in the first patients to be treated. Its characteristics make it the most promising gene therapy drug candidate currently in development to treat the thousands of children born each year with this disease.

Genethon目前正在开发一种候选药物，该药物已在首批接受治疗的患者中证明了其疗效。它的特点使其成为目前正在开发的最有希望的基因治疗候选药物，用于治疗每年出生的数千名患有这种疾病的儿童。

Duchenne muscular dystrophy is one of the most common childhood neuromuscular diseases. Nearly 250,000 people - mostly children - are affected worldwide, and all are waiting for the treatment that will change their lives.

杜兴氏肌营养不良症是儿童期最常见的神经肌肉疾病之一。全世界近25万人（主要是儿童）受到影响，所有人都在等待改变他们生活的治疗。

Today, gene therapy is the most promising therapeutic approach, because it tackles the origin of the disease, not just its symptoms. Genethon has developed GNT0004, a drug candidate combining a microdystrophin and an AAV8 vector, currently being evaluated in a gene therapy trial being conducted in France and the UK..

今天，基因疗法是最有前途的治疗方法，因为它不仅解决了疾病的症状，而且解决了疾病的起源。Genethon开发了GNT0004，这是一种结合微肌营养不良蛋白和AAV8载体的候选药物，目前正在法国和英国进行的基因治疗试验中进行评估。。

Safety and pharmacodynamic results from the first patients, presented at the Myology2024 congress in Paris in April, showed good tolerance of GNT0004, as well as efficacy data, both in terms of microdystrophin expression and functional improvement. Indeed, children treated at the therapeutic dose improved their ability to walk, even run, climb stairs and stand up on their own, with or without support..

4月在巴黎举行的Myology2024大会上提交的首批患者的安全性和药效学结果显示，在微肌营养不良蛋白表达和功能改善方面，GNT0004具有良好的耐受性，以及疗效数据。事实上，接受治疗剂量治疗的儿童在有或没有支持的情况下，提高了他们走路，甚至跑步，爬楼梯和独立站立的能力。。

On the strength of the positive opinion of the IDMC (Independent Data Monitoring Committee), Genethon will begin the final phase of evaluation of the drug candidate with the dose that demonstrated its efficacy in the first phase of the trial. This dose is lower than those used in all other gene therapy trials currently being conducted for Duchenne muscular dystrophy and lower than the gene therapy product approved by FDA.

在IDMC（独立数据监测委员会）的积极意见的支持下，Genethon将开始候选药物评估的最后阶段，剂量在试验的第一阶段证明了其疗效。该剂量低于目前针对杜兴氏肌营养不良症进行的所有其他基因治疗试验中使用的剂量，并且低于FDA批准的基因治疗产品。

This represents a major advantage in terms of patient safety (limiting side-effects), ease of production, and treatment cost..

这代表了患者安全（限制副作用），易于生产和治疗成本方面的主要优势。。

'After years of research, during which Duchenne muscular dystrophy has taken so many lives, hope is now tangible for families, and particularly for those whose young children are now diagnosed. Seeing children, who should inexorably lose their strength, making manifest progress - running, climbing stairs one leg at a time - is an incredible emotion.

“经过多年的研究，杜兴氏肌营养不良症夺去了许多人的生命，现在对家庭，特别是那些现在被诊断出年幼孩子的家庭来说，希望是实实在在的。看到孩子们无情地失去了力量，取得了明显的进步——一次一条腿跑，爬楼梯——是一种难以置信的情绪。

The fight goes on, stronger than ever! Our hearts go out to Genethon's researchers and experts in this final stretch, and we look to the future with great optimism,' said Laurence Tiennot-Herment, President of AFM-Telethon (French neuromuscular dystrophy association) and mother of Charles-Henri, who died of Duchenne muscular dystrophy in 2003.

战斗还在继续，比以往任何时候都更加激烈！AFM Telethon（法国神经肌肉萎缩症协会）主席、查尔斯·亨利（CharlesHenri）的母亲劳伦斯·蒂恩特·赫门特（LaurenceTiennotHerment）说，在这最后一段时间里，我们衷心感谢Genethon的研究人员和专家，我们以极大的乐观展望未来。查尔斯·亨利于2003年死于杜兴氏肌营养不良症。

See more including patient testimonials on the web site of the AFM-Telethon.

在AFM Telethon网站上查看更多信息，包括患者证明。

'This program is a real scientific and technological adventure, but also a human one for us, born of the determination of families affected by Duchenne muscular dystrophy. We are very proud of the results obtained by our gene therapy GNT0004 in the first patients treated and look forward to starting the pivotal phase of the trial in Europe.

“这个项目是一次真正的科技冒险，但对我们来说也是一次人类冒险，它源于受杜兴氏肌营养不良症影响的家庭的决心。我们对我们的基因治疗GNT0004在首批接受治疗的患者中获得的结果感到非常骄傲，并期待着在欧洲开始该试验的关键阶段。

Genethon teams are more determined than ever to succeed and offer families an effective and safe treatment that changes the lives of children suffering from Duchenne muscular dystrophy,' said Frederic Revah, Chief Executive Officer of Genethon..

Genethon首席执行官弗雷德里克·雷瓦（FredericRevah）说，Genethon团队比以往任何时候都更有决心取得成功，为家庭提供有效和安全的治疗，改变患有杜兴氏肌营养不良症的儿童的生活。。

About GNT0004

关于GNT0004

The GNT0004 gene therapy product is composed of an AAV8 (adeno-associated virus) vector and the optimized hMD1 transgene, a shortened but functional version of the gene encoding dystrophin, the protein deficient in people with Duchenne muscular dystrophy. This vector is designed to be expressed in muscle tissue and also in the heart, thanks to a tissue-specific Spc5-12 promoter sequence.

GNT0004基因治疗产品由AAV8（腺相关病毒）载体和优化的hMD1转基因组成，hMD1转基因是编码肌营养不良蛋白（Duchenne肌营养不良症患者缺乏的蛋白质）的基因的缩短但功能性版本。由于组织特异性Spc5-12启动子序列，该载体被设计为在肌肉组织和心脏中表达。

GNT0004 is administered by a single intravenous injection. It was developed by Genethon, in partnership with the teams of Prof. Dickson (University of London, Royal Holloway) and the Institute of Myology..

GNT0004通过单次静脉注射给药。它是由Genethon与Dickson教授（伦敦大学皇家霍洛韦分校）和肌病研究所的团队合作开发的。。

About Duchenne muscular dystrophy

关于杜兴氏肌营养不良症

Duchenne muscular dystrophy, which affects 1 in 5,000 boys, is a rare progressive genetic disease affecting all muscles in the body. It is linked to abnormalities in the gene responsible for the production of dystrophin, a structural protein essential for the stability of muscle fiber membranes and their metabolism.

杜兴氏肌营养不良症（Duchenne muscular dystrophy）是一种罕见的进行性遗传疾病，每5000名男孩中就有1名患病。它与负责产生肌营养不良蛋白的基因异常有关，肌营养不良蛋白是肌纤维膜及其代谢稳定性所必需的结构蛋白。

The absence of dystrophin leads to progressive degeneration of skeletal and cardiac muscles, loss of walking and respiratory capacity, cardiomyoapthy and death between the ages of 20 and 40..

肌营养不良蛋白的缺乏会导致骨骼肌和心肌的进行性变性，行走和呼吸能力的丧失，心肌病以及20至40岁之间的死亡。。

About Genethon

关于Genethon

A pioneer in the discovery and development of gene therapies for rare diseases, Genethon is a not-for-profit laboratory created by the AFM-Telethon. A first gene therapy drug to which Genethon contributed, was successfully marketed for spinal muscular atrophy. With over 220 scientists and professionals, Genethon aims to develop innovative therapies that change the lives of patients suffering from rare genetic diseases.

Genethon是发现和开发罕见疾病基因疗法的先驱，是AFM Telethon创建的非营利性实验室。Genethon贡献的第一种基因治疗药物已成功上市治疗脊髓性肌萎缩症。Genethon拥有220多名科学家和专业人员，旨在开发创新疗法，改变患有罕见遗传病的患者的生活。

Thirteen gene therapy products resulting from Genethon's research, or to which Genethon has contributed, are currently in clinical trials for diseases of the liver, blood, immune system, muscles and eyes. Seven other products are being prepared for clinical trials over the next five years. www.genethon.com.

Genethon研究产生的13种基因治疗产品，或Genethon贡献的基因治疗产品，目前正在进行肝脏、血液、免疫系统、肌肉和眼睛疾病的临床试验。另外七种产品正在为未来五年的临床试验做准备。www.genethon.com。