Clinical Research in ALS & related disorders for Therapeutic Development (CREATE)

描述（由申请人提供）： ALS和相关疾病治疗开发的临床研究（CREATE）RDCRC将专注于ALS和一组相关的退行性疾病，包括PLS，HSP，PMA和FTD。这组疾病是统一的退化性质;其重叠的表型由上运动神经元，下运动神经元和额颞神经元系统的退化;其重叠的遗传易感性;其共同的基础生物学;和他们的统一缺乏有效的治疗。这些疾病在生物标志物和治疗开发方面也面临着共同的挑战-这些挑战可以通过共同的实验方法来克服。CREATE RDCRC的总体目标是更好地了解这组疾病的基因型和表型之间的关系，并开发疾病生物标志物，以促进药物发现和治疗患有这些神经退行性疾病之一的患者的治疗开发。CREATE RDCRC汇集了多学科的研究人员和代表患者人群的各种患者倡导团体，这些患者人群是我们研究工作的重点。这些组织包括ALS协会、肌营养不良协会、痉挛性截瘫基金会、额颞叶变性协会、ALS康复基金和PatientsLikeMe。CREATE RDCRC的专业知识多样性涵盖临床神经学（神经肌肉疾病和认知/行为神经学），遗传学，遗传流行病学，分子神经科学，生物标志物开发，药物发现，生物统计学和临床试验，以及患者宣传，教育和推广。因此，CREATE联盟是一个真正的转化型企业，有效地弥合了基础科学家和从事应用临床研究的研究人员之间的差距。我们与安大略脑研究所神经退行性疾病研究计划和欧洲力量联盟的新合作显著增强了该RDCRC的潜在影响。

DESCRIPTION (provided by applicant): The Clinical Research in ALS and related disorders for Therapy Development (CREATE) RDCRC will focus on ALS and a group of related degenerative disorders that includes PLS, HSP, PMA, and FTD. This group of disorders is unified by their degenerative nature; their overlapping phenotypes resulting from degeneration of upper motor neuron, lower motor neuron and frontotemporal neuronal systems; their overlapping genetic susceptibility; their shared underlying biology; and their uniform lack of effective therapies. These disorders also share common challenges with respect to biomarker and therapeutic development - challenges that might be overcome through a shared experimental approach. The over-arching goals of the CREATE RDCRC are to better understand the relationship between genotype and phenotype for this group of disorders, and to develop disease biomarkers with a view to facilitating drug discovery and therapeutic development for patients afflicted with one of these neurodegenerative disorders. The CREATE RDCRC brings together a multi-disciplinary group of investigators and a diverse array of patient advocacy groups representing the patient populations that are the focus of our research efforts. These include the ALS Association, the Muscular Dystrophy Association, the Spastic Paraplegia Foundation, the Association for Frontotemporal Degeneration, the ALS Recovery Fund and PatientsLikeMe. The diversity of expertise within the CREATE RDCRC spans clinical neurology (neuromuscular disease and cognitive/behavioral neurology), genetics, genetic epidemiology, molecular neuroscience, biomarker development, drug discovery, biostatistics, and clinical trials, as well as patient advocacy, education and outreach. The CREATE Consortium, therefore, is a truly translational enterprise that effectively bridges the gap between basic scientists and investigators engaged in applied clinical research. Our new collaboration with the Ontario Brain Institute Neurodegenerative Disease Research Initiative, and the European STRENGTH Consortium significantly enhance the potential impact of this RDCRC.