Commercialization of a Diagnostic test for amyotrophic lateral sclerosis (ALS)

描述（由申请人提供）：肌萎缩侧索硬化症（ALS或Lou Gehrig病）是一种致命的神经退行性疾病，诊断后的典型寿命为3 - 5年。最初的症状可能与许多其他神经系统疾病相似，并且通常开始为肢体无力、肌肉震颤或言语或呼吸困难增加。目前对于ALS还没有明确的诊断测试，并且临床诊断通常 从症状发作开始需要12个月，并且依赖于排除临床症状的其他潜在原因。早期诊断将允许更快地开始使用新药治疗 开发中的治疗，或同样重要的是提供了一种快速排除ALS作为症状原因的方法。Iron Horse Diagnostics，Inc.旨在完成ALS诊断和预后指标的开发，并在临床实验室改进修正案（CLIA）认证的实验室中将这些测定作为实验室开发的测试（LDT）进行销售。我们已经发表了一系列同行评议的出版物，令人信服地证明，在ALS患者的血液和CSF中可以检测到显著水平的pNfH和补体c3，并且我们的检测方法检测到的水平为ALS提供了诊断实用性。我们提出了一系列任务，以优化和验证我们的检测在CLIA认证的实验室，商业化之前的最后剩余步骤。 这是一个快速跟踪应用程序，因为在第三阶段之前的剩余步骤是用高度可定义的通/止门定义的。在拟议工作的第一阶段，我们将通过测试样品中的指示性蛋白质并将检测技术转化到新平台上，最终确定并优化作为ALS诊断指标的检测方法。第二阶段将通过进行多中心前瞻性临床研究来扩展这一点，并在CLIA认证的实验室中使用患者样本进行鉴定，以确定ALS诊断的整体准确性。该提案的目标是在CLIA认证的实验室中为这些可用于临床诊断ALS的生物标志物生成灵敏且经验证的LDT（实验室开发的测试）。经过认证的LDT将作为一项服务向临床医生销售。

DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is a fatal neurodegenerative disease with a typical lifespan of 3 - 5 years after diagnosis. The initial symptoms can be similar to many other neurologic disorders and often begin with limb weakness, muscle fasciculations, or increasing difficulties in speech or breathing. No definitive diagnostic tests currently exist for ALS, and clinical diagnosis typically takes 12 months from symptom onset and relies on ruling out other potential causes of the clinical symptoms. Earlier diagnosis will permit more rapid initiation of treatment with newer drug therapies in development, or equally important provide a means to rapidly rule out ALS as a cause of the symptoms. Iron Horse Diagnostics, Inc. was created to finalize the development of diagnostic and prognostic indicators of ALS and market these assays as laboratory developed tests (LDTs) in a Clinical Laboratory Improvement Amendments (CLIA) certified lab. We have produced a series of peer-reviewed publications convincingly demonstrating that significant levels of pNfH and complement c3 can be detected in the blood and CSF of ALS patients, and that the levels detected by our assays provide diagnostic utility for ALS. We propose a series of tasks to optimize and validate our assays in a CLIA certified laboratory, the last remaining steps before commercialization. This is a FastTrack application because the remaining steps before Phase III are well defined with highly definable go/no-go gates. During Phase I of the proposed work, we will finalize and optimize assays as diagnostic indicators of ALS by testing samples for indicative proteins and translating the assay technology onto a new platform. Phase II will expand on this by conducting a multi-center prospective clinical research study and qualifying the assays using patient samples in a CLIA-certified lab to determine the overall accuracy of the ALS diagnostic. The goal of this proposal is to generate a sensitive and validated LDT (Lab Developed Test) for these biomarkers useful for clinically diagnosing ALS in a CLIA certified lab. A certified LDT will be marketed to clinicians as a service.