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Alzheimer's Disease Diagnostic Tests, Technologies Moved Closer to Market in 2021


NEW YORK ─ Alzheimer's disease diagnostics moved closer to commercialization in 2021 with some developers announcing their intentions to pursue regulatory clearances while others formed partnerships or obtained funding to support technology development.

Additionally, in June the US Food and Drug Administration approved aducanumab (Biogen's Aduhelm) as an amyloid beta-directed antibody treatment for Alzheimer's, making it the first Alzheimer's disease drug to obtain such an approval in almost 20 years. Though opponents of the approval said there is insufficient evidence that the drug will have any benefit for patients, some IVD developers saw it as an important approval with potential to boost demand for tests.

One such company, Malvern, Pennsylvania-based Fujirebio, is pursuing FDA clearance for its Lumipulse G β-Amyloid Ratio (1-42/1-40) Alzheimer's disease diagnostic test, which runs on its fully automated Lumipulse G1200 instrument. An FDA go-ahead for Fujirebio's test would mean clinicians looking to prescribe Biogen's drug can use the test to identify suitable patients, Hiroshi Sekiya, Fujirebio's senior manager of product and customer management, told 360Dx.

The assay measures concentrations of β-Amyloid1-42 and β-Amyloid1-40 peptides in cerebrospinal fluid and provides a numerical ratio that can be used to differentiate Alzheimer's from non-Alzheimer's dementias, the firm said.

The firm obtained CE marking for the assay in 2017 and said that more than 50,000 of the tests are being performed each year in memory clinics associated with hospitals in Europe and other regions that accept the regulatory designation.

Roche is also seeking FDA clearances for its Elecsys Alzheimer's disease diagnostic immunoassays, its CEO Severin Schwan said on a conference call in July to discuss the firm's first-half financial results. One of its tests measures beta-amyloid peptide concentrations while a second measures phospho-tau peptide concentrations in cerebrospinal fluid. Roche had obtained breakthrough device designation for the tests in 2018, and they are already approved for use outside the US.

In October, the FDA granted breakthrough device designation to Quanterix for its Simoa phospho-Tau 181 (pTau-181) blood test, a semiquantitative immunoassay for the measurement of pTau-181 concentration in human serum and plasma using the Quanterix HD-X immunoassay system. Proposed indications include use of the test results in adult patients 50 and older presenting with cognitive impairment to aid in the diagnosis of Alzheimer's disease.

Other companies are pursuing the laboratory-developed test route, like Alzheimer's testing firm C2N Diagnostics which continued to build the case for PrecivityAD, a blood-based test that uses mass spectrometry to measure blood amyloid beta (Aβ) 40, Aβ 42, and apolipoprotein E levels. Launched in October 2020 as an LDT, the assay also takes patient age into account and generates a score of 0 to 100, with a higher score indicating a higher likelihood of the amyloid brain plaques characteristic of Alzheimer's disease.

In May, C2N and its collaborators published a study in Molecular Neurodegeneration that looked at the test's performance in 414 plasma samples collected from six different US cohorts, and predicted amyloid status with 86 percent accuracy when ApoE4 copy number and age were included in the test model. The St. Louis-based company and collaborators published a separate study in Clinica Chimica Acta and found the assay had levels of precision, accuracy, sensitivity, and linearity suitable for clinical testing.

Further, San Francisco-based biomarker testing company Amprion announced the launch of its SynTap Biomarker LDT out of its San Diego CLIA lab. It detects a-synuclein aggregates, a hallmark in various brain diseases, and aids in diagnosing synucleinopathies such as Parkinson's disease, Lewy body dementia, and multiple system atrophy. It also helps distinguish underlying synucleinopathies in other neurodegenerative conditions such as Alzheimer's.

Among other notable studies in the Alzheimer's disease testing space in 2021, a team led by researchers at Lund University and the University of Gothenburg reported findings in June about the potential use of neurofilament light, or NfL, chain to diagnose and manage a range of neurodegenerative disorders.

The increase in NfL was quite mild in Alzheimer's patients, and markers like phosphorylated tau may be more useful for diagnosing the disease, the researchers said. On the other hand, elevated NfL levels in the absence of elevated phosphorylated tau could indicate non-Alzheimer's dementia, they noted.

Tech development and funding

Numerous firms announced advances in technology development for Alzheimer's disease diagnostic testing. Norwegian startup Pre Diagnostics said it is developing a monocyte blood immunoassay that analyzes the insides of innate immune cells in a bid to detect Alzheimer's disease before there are symptoms. The assay, called PreADx, uses the intracellular measurements to monitor the ongoing clearance from the brain of amyloid-beta plaque, a hallmark of Alzheimer's disease pathology.

Additionally, San Diego-based liquid biopsy firm Biological Dynamics has been exploring a novel alternating current electrokinetic-based system, called Verita, for numerous potential diagnostic applications including the detection of Alzheimer's.

On the funding front, South Korean diagnostics company Speclipse announced in August that it had raised $7.7 million to develop additional applications for its laser spectroscopic technique, which has been used for skin cancer diagnosis from tissue. The company is using artificial intelligence and deep learning to process and analyze large amounts of spectroscopic data from blood, enabling early diagnosis of gastric cancer and Alzheimer's disease.

Synaps Dx, a developer of tests for neurodegenerative disorders, announced in October that it had closed a $10 million Series A financing round. The Rockville, Maryland-based firm, which operates a CLIA-certified laboratory, is using the proceeds to scale up production and meet market demand for Discern, its minimally invasive test for the diagnosis of Alzheimer's disease and differentiation from other forms of dementia. According to the firm's website, Discern detects Alzheimer's disease at the earliest stages of onset by testing for the presence of three undisclosed biomarkers that are unique to the disease. In 2018, the company received FDA breakthrough device designation for the test.

Neurodegenerative disease diagnostics firm Valted Seq announced in November it had raised $10.5 million in seed financing. The Gaithersburg, Maryland-based firm has been developing a platform called HiF-Seq for collecting single-cell sequencing data from postmortem brains of patients with neurodegenerative diseases such as Parkinson's and Alzheimer's.

Valted Seq had announced in April it obtained exclusive rights from Johns Hopkins University to evaluate biomarker assays to diagnose and manage neurodegenerative diseases.

Further, Albuquerque, New Mexico-based Circular Genomics announced in December it had raised $4.5 million in seed funding to develop its molecular diagnostic test for depression based on circular RNA biomarker technology from the University of New Mexico. Circular, founded earlier this year, is also planning to develop an Alzheimer's disease detection and prediction assay, as well as tests for post-traumatic stress disorder and bipolar disorder.

Tataa Biocenter said in February that it had acquired a majority stake in Swedish genetic testing provider Life Genomics. Spun off from Gothenburg-based Tataa in 2014, Life Genomics offers a test for Alzheimer's disease risk as well as Roche's Harmony noninvasive prenatal test for chromosomal abnormalities.

Among firms collaborating on Alzheimer's disease testing in 2021, Yourgene said in March that it had signed a contract with UK-based Cytox to run that company's GenoScore-Lab genetic test for the prediction of Alzheimer's disease risk in its Citylabs 1.0 laboratory in Manchester. The two companies had previously signed a collaboration agreement and concluded beta testing for the array-based test.

Cytox's GenoScore technology predicts the risk of cognitive decline due to Alzheimer's disease using a patient's saliva or blood sample. The technology — which runs on the Thermo Fisher Scientific GeneTitan instrument — analyzes a patient's genes for more than 100,000 SNPs linked to Alzheimer's disease, generating a patient-specific polygenic risk score.

Cytox obtained CE marking for the GenoScore-Lab genetic risk test for Alzheimer's disease in February, and launched the test in Europe.

The firm said in June that it is collaborating with Infinity BiologiX to launch a liquid biopsy-based test for Alzheimer's disease risk in the US which uses Cytox's GenoScore platform. Piscataway, New Jersey-based IBX offers the laboratory-developed test from its CLIA-certified, CAP-accredited lab.

In May, Biopharma company Alzheon announced it had entered a collaboration and license agreement with the Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences to develop a test for Alzheimer's disease. The clinical assay is being developed to measure neurotoxic beta amyloid oligomers in human cerebrospinal fluid and to address the limitations of current tests to detect amyloid oligomers that do not distinguish individual species of amyloid oligomers.