Whole blood filter paper assay for Alzheimers Disease

总结 BioSpyder建议开发和验证阿尔茨海默病（AD）的分类器测试， 分类其他痴呆症。Biospyder将把它作为RUO进行市场推广，然后在 体外诊断（IVD）试验，解决了一个主要的未满足的需求。该计划是基于一个非常成功的阶段 I.发现使用来自手指针刺的全血的分类器点在滤纸上并使用 全转录组TempO-Seq®基因表达测定（WBFP TempO-Seq测定）产生 AD和帕金森病的特征，允许建立一个分类器， 最初的准确率为87%。在用另外的AD样本重新训练之后，WBFP TempO-Seq AD分类器 正确鉴定了100%的AD样品的独立测试队列，并鉴定了免疫细胞功能 信号背后的路径AD是痴呆症中最常见的一种， 女性五分之一，男性十分之一。轻度认知障碍（MCI）可以在这些患者之前几年注意到 可以被诊断为AD或其他痴呆症，多年的不确定性，没有治疗，失去了时间来准备一个 未来AD这种诊断需要神经科医生进行认知测试，在某些情况下， 通过淀粉样蛋白PET扫描确认。生物标志物免疫测定最近在突破下获得批准 器械名称不明确，需要进行认知测试或β-淀粉样蛋白PET扫描进行诊断， 需要抽血或收集脑脊液。因此，对最终IVD的需求仍未得到满足。在这 第二阶段，我们将验证WBFP TempO-Seq检测对AD患者进行分类的性能， 对其他痴呆患者进行分类，确定在出现MCI患者后多早可以识别 对于AD，将WBFP TempO-Seq测定分类与β-淀粉样蛋白PET扫描和免疫测定相关联， 实施/验证聚焦WBFP TempO-Seq AD或泛痴呆症测试的性能，并准备 在IDE前会议上与FDA会面，讨论申请所需的研究 就像IVD一样。WBFP TempO-Seq全转录组，聚焦性，AD和聚焦性泛痴呆 将推出RUO测试，用于识别新的治疗靶点，表征MCI的进展， AD，促进药物发现工作和患者的选择/分类，并可能用于开发 作为伴随诊断测试。如果WBFP TempO-Seq AD或泛痴呆症测试获得FDA批准， 具有变革性，不仅可以提供AD或其他痴呆症的明确诊断，而且可能 在通过认知测试进行诊断之前提供诊断，同样重要的是， 自行采集样本，以解决没有负担得起的医疗服务的家庭和人口的健康差距问题; 也不容易找到神经科医生如果提供早期明确诊断，任何诊所或医生（或家庭） 成员）可以评估人的AD和潜在的其他痴呆症，扩大网络能够 提供诊断并将神经科医生的作用集中在治疗和护理上。

SUMMARY BioSpyder proposes to develop and validate a classifier test for Alzheimer’s Disease (AD) that may also classify other dementias. Biospyder will market this as an RUO, then pursue development as a definitive in vitro diagnostic (IVD) test, addressing a major unmet need. The program is based on a very successful Phase I. It was found that a classifier using whole blood from a finger-stick spotted on filter paper and assayed using the whole transcriptome TempO-Seq® gene expression assay (the WBFP TempO-Seq assay) produced signatures for both AD and Parkinsons’s Disease that permitted a classifier to be built that identified each initially with 87% accuracy. After retraining with additional AD samples, the WBFP TempO-Seq AD classifier identified 100% of an independent testing cohort of AD samples correctly, and identified immune cell functional pathways underlying the signature. AD is the most common form of dementia, with the risk of developing AD 1 in 5 for women, 1 in 10 for men. Mild cognitive impairment (MCI) can be noticed years before those patients can be diagnosed with AD or another dementia, years of uncertainty, no treatment, lost time to prepare for a future with AD. That diagnosis requires cognitive testing administered by a neurologist, with in some cases confirmation by a -amyloid PET scan. Biomarker immunoassays recently cleared under the Breakthrough Device designation are not definitive and require cognitive testing or a -amyloid PET scan for diagnosis, and require drawing blood or collecting cerebral spinal fluid. Thus, the still unmet need for a definitive IVD. In this Phase II we will validate the performance of the WBFP TempO-Seq assay to classify AD patients, ability to classify patients with other dementias, establish how early after presenting with MCI patients can be identified with AD, correlate the WBFP TempO-Seq assay classification to -amyloid PET scans and immunoassay, implement/validate performance of a focused WBFP TempO-Seq AD or pan-dementia test, and prepare the materials for, and meet with, the FDA in a pre-IDE meeting to discuss the studies required for an application for clearance as an IVD. The WBFP TempO-Seq whole transcriptome, focused, AD and focused pan-dementia tests will be marketed for RUO use to identify novel therapeutic targets, characterize the progression from MCI to AD, facilitate drug discovery efforts and selection/classification of patients, and potentially for development as companion diagnostic tests. If the WBFP TempO-Seq AD or pan-dementia tests are FDA cleared, they will be transformative, not just by providing a definitive diagnosis of AD or other dementias, but potentially by providing that diagnosis before a diagnosis by cognitive testing can be made, and as importantly, by enabling self-collection of samples to address health disparities in families and populations that do not have affordable or easy access to a neurologist. If providing early, definitive diagnosis, any clinic or physician (or family members) can evaluate persons for AD and potentially other dementias, broadening the network able to provide diagnosis and focusing the role of the neurologist onto therapy and care.