治疗遗传性痉挛性截瘫(HSP)新项目DYN201启动
致力于改善罕见病患者生活的临床阶段药物开发公司Dynacure前不久宣布，其已与巴黎脑研究所达成协议，以获得与开发该公司治疗遗传性痉挛性截瘫(Hereditary Spastic Paraplegia，HSP)的第二个管线项目DYN201相关的知识产权。
Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.[1]
Hereditary Spastic Paraplegias are a group of neurodegenerative diseases characterized by spasticity and motor dysfunction and affecting approximately 5 out of every 100,000 people. The only available treatments for these diseases are muscle relaxants, which influence the muscle rigidity or spasticity but do not prevent or delay disease progression. Furthermore, some forms of HSP are associated with cognitive deficits that are not improved by current treatments. There is a strong unmet need for treatment of these diseases.[2]
遗传性痉挛性截瘫是一组主要影响上运动神经元的神经退行性遗传病。脑部和脊髓上运动神经元传达信号给下运动神经元，再传达信息给肌肉。而遗传性痉挛性截瘫会导致上运动神经元逐渐退化，肌肉无法接收到正确的信息，从而引起下肢进行性痉挛（肌张力增高或僵硬）和肌无力，使行走变得困难，症状会随着病程发展而逐渐加重。
大约每10万人中就有5人患病。治疗这类疾病唯一有效方法是肌肉松弛剂，它可以缓解肌肉僵硬或痉挛，但不能阻止或延缓疾病的进展。此外，某些类型的HSP还会影响认知能力，对于认知缺陷目前尚无有效的治疗方法。
巴黎脑研究所的研究人员发现SPG11基因突变可导致最常见的常染色体隐性遗传性HSP（HSP 11型）。致病基因SPG11突变与胼胝体变薄、认知能力下降和下运动神经元变性有关。Dynacure正在推进DYN201，这是一个治疗HSP 11型的临床前项目，这凸显出公司对开发罕见神经适应症治疗方法的决心。
references:
[1]retrieved from: https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia
[2]retrieved Oct. 13 2020 from: https://www.prnewswire.com/news-releases/dynacure-announces-new-program-dyn201-for-hereditary-spastic-paraplegia-hsp-a-rare-neurodegenerative-disease-301150716.html
Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.[1]
Hereditary Spastic Paraplegias are a group of neurodegenerative diseases characterized by spasticity and motor dysfunction and affecting approximately 5 out of every 100,000 people. The only available treatments for these diseases are muscle relaxants, which influence the muscle rigidity or spasticity but do not prevent or delay disease progression. Furthermore, some forms of HSP are associated with cognitive deficits that are not improved by current treatments. There is a strong unmet need for treatment of these diseases.[2]
遗传性痉挛性截瘫是一组主要影响上运动神经元的神经退行性遗传病。脑部和脊髓上运动神经元传达信号给下运动神经元，再传达信息给肌肉。而遗传性痉挛性截瘫会导致上运动神经元逐渐退化，肌肉无法接收到正确的信息，从而引起下肢进行性痉挛（肌张力增高或僵硬）和肌无力，使行走变得困难，症状会随着病程发展而逐渐加重。
大约每10万人中就有5人患病。治疗这类疾病唯一有效方法是肌肉松弛剂，它可以缓解肌肉僵硬或痉挛，但不能阻止或延缓疾病的进展。此外，某些类型的HSP还会影响认知能力，对于认知缺陷目前尚无有效的治疗方法。
巴黎脑研究所的研究人员发现SPG11基因突变可导致最常见的常染色体隐性遗传性HSP（HSP 11型）。致病基因SPG11突变与胼胝体变薄、认知能力下降和下运动神经元变性有关。Dynacure正在推进DYN201，这是一个治疗HSP 11型的临床前项目，这凸显出公司对开发罕见神经适应症治疗方法的决心。
references:
[1]retrieved from: https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia
[2]retrieved Oct. 13 2020 from: https://www.prnewswire.com/news-releases/dynacure-announces-new-program-dyn201-for-hereditary-spastic-paraplegia-hsp-a-rare-neurodegenerative-disease-301150716.html
