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

描述(由申请人提供)： 肌萎缩侧索硬化症及相关疾病的临床研究(CREATE)RDCRC将集中于肌萎缩侧索硬化症和一组相关的退行性疾病，包括PLS、HSP、PMA和FTD。这组障碍是统一的，因为它们具有退行性；由于上运动神经元、下运动神经元和额颞神经系统的退化而产生的重叠表型；它们重叠的遗传易感性；它们共同的潜在生物学；以及它们普遍缺乏有效的治疗方法。这些疾病在生物标记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类疾病的基因型和表型之间的关系，并开发疾病生物标记物，以促进患有这些神经退行性疾病之一的患者的药物发现和治疗开发。CREATE RDCRC汇集了一个多学科的研究人员小组和代表我们研究工作重点的患者群体的各种患者倡导团体。这些组织包括肌萎缩侧索硬化症协会、肌营养不良症协会、痉挛截瘫基金会、额颞部退化协会、肌萎缩侧索硬化症恢复基金和患者喜欢我。CREATE RDCRC的专业知识多元化，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、生物标记物开发、药物发现、生物统计学和临床试验，以及患者倡导、教育和推广。因此，Create Consortium是一家真正的翻译企业，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。我们与安大略省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这一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.