A blood test to diagnose ALS.

A blood test to diagnose amyotrophic lateral sclerosis (ALS) could be widely available within two years.

Currently, ALS is diagnosed through a clinical examination by a neurologist but distinguishing it from other neurological diseases requires tracking symptom progression.

 This is problematic, as the average survival time in ALS is approximately three years, meaning many patients deteriorate significantly before receiving a definitive diagnosis.

Initial misdiagnosis rates range as high as 68%, delaying treatment and causing patients to be passed between specialists, increasing anxiety, unnecessary interventions, and costs.

A simple blood test for ALS would be a game-changer. It would speed up diagnosis, reduce anxiety, lower costs, and support the development of new drugs. Given the high misdiagnosis rate, a negative result would also be highly valuable.

Extracellular vesicles are nano-sized particles that circulate in the blood, are secreted by all cells, an contain microRNA. 

Researchers at the Brain Chemistry Labs in Jackson, Wyoming, reported today in Brain Communications that they have identified an ALS-specific biomarker, an “ALS fingerprint,” in the blood. The biomarker of eight microRNAs (miRNAs) can be detected via a simple blood draw.

Using next-generation sequencing and real-time PCR, the team analyzed blood samples from patients with ALS, Primary Lateral Sclerosis (PLS), Parkinson’s disease (PD), and healthy individuals.

The eight microRNA ALS fingerprint accurately detects ALS with as high as 98% accuracy and can separate ALS from PLS and PD.

“Faster diagnoses will allow for earlier treatment, which will improve patient outcomes,” says Sandra Banack, lead author of the study.

To confirm its reliability, the biomarker was tested across four different patient groups, in two labs, with various technicians and collection methods. The ALS fingerprint consistently produced reliable results.

Researchers believe this blood test could assist neurologists in diagnosing ALS and complement current clinical assessments.

Dr. Paul Alan Cox, Executive Director of Brain Chemistry Labs, hopes to secure a diagnostic company partnership and make this test widely available to neurologists within 18 to 24 months.

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Brain Chemistry Labs is a 501(c)(3) not-for-profit organization in Jackson, Wyoming, that seeks to discover new ways to prevent, diagnose and treat ALS, Alzheimer’s, Parkinson’s and other serious brain diseases.

The Brain Communications paper, “A microRNA diagnostic biomarker for amyotrophic lateral sclerosis” (DOI 10.1093/braincomms/fcae268) can be accessed here.

New Alzheimer’s Biomarker May Facilitate Rapid Diagnosis

Discovery of a unique ratio of metabolites from blood samples of early-stage Alzheimer’s patients promises to speed diagnosis of Alzheimer’s disease.

Although symptoms of advanced Alzheimer’s disease are well known, diagnosis of Alzheimer’s disease in its earliest stages requires careful cognitive testing by neurologists.

Discovery of a unique ratio of metabolites from blood samples of early-stage Alzheimer’s patients promises to speed diagnosis, allowing earlier treatments to be initiated.

“We were delighted to discover that the ratio of two molecules, 2-aminoethyl dihydrogen phosphate and taurine, allows us to reliably discriminate samples of early-stage Alzheimer’s patients from controls,” said Dr. Sandra Banack, lead author of the report in PLOS ONE and Senior Scientist at the Brain Chemistry Labs in Jackson Hole.

Dr. Sandra Banack works on the amino acid analyzer in the Brain Chemistry Labs, Jackson, Wyoming.

The blood samples were drawn from patients enrolled in an FDA-approved Phase II trial at Dartmouth Hitchcock Medical Center in New Hampshire and then shipped to the Brain Chemistry Labs for analysis. Current attempts to diagnose Alzheimer’s disease from blood samples depend on the presence of amyloid fragments, the molecules that cause brain tangles and plaques.

“At the Brain Chemistry Labs, we consider amyloid plaques to be a consequence rather than the cause of Alzheimer’s disease,” Dr. Paul Alan Cox, Executive Director of the Brain Chemistry Labs explains. “What is exciting about this new discovery is that it does not depend on amyloid and the assay can be performed on analytical equipment that is already present in most large hospitals.”

Their report, written with Alzheimer’s expert Dr. Aleksandra Stark, “A Possible Blood Plasma Biomarker for Early-stage Alzheimer’s Disease” is being published this week in PLOS ONE.

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About the Brain Chemistry Labs: The Brain Chemistry Labs is a not-for-profit research institute based in Jackson Hole focused on improving outcomes for patients suffering from Alzheimer’s, ALS, and other neurodegenerative illnesses.

Contacts:
Dr. Sandra Banack, Tel: 307-734-1680, sandra@ethnomedicine.org
Dr. Paul Alan Cox, Tel: 801-375-6214, paul@ethnomedicine.org

Download our press release here

Can We Transform the Diagnosis & Treatment of ALS?

In 1874, Jean-Martin Charcot described a devastating paralytic illness which we now call ALS.

ALS cuts down people in the prime of their lives.

Only two FDA-approved drugs exist for the treatment of ALS, and neither significantly slow disease progression.

We have focused on the early diagnosis and treatment of ALS.

We discovered a molecular fingerprint of ALS, which will allow neurologists to definitively diagnose ALS based on a single blood draw. We extract microRNA from exosomes—microscopic packages of genetic material—in the blood sample. The unique assemblage of microRNA identifies ALS patients.

Currently, many patients have to wait a year or more to receive an ALS diagnosis. This new diagnostic test will allow patients to begin treatment much earlier.

Our advanced clinical trials of the naturally occurring amino acid L-serine are promising.

Hopefully, this combination of a diagnostic and a treatment package will be attractive to a pharmaceutical partner who can conduct the larger clinical trials that will be needed.

Dr. Sandra Banack prepares an ELISA plate to measure exosomes.