New ALS diagnostic blood test

ALS is a debilitating paralytic disease characterized by the death of upper and lower motor neurons. Fortunately, ALS is relatively rare, with an incidence rate of 1.6 per 100,000 adults, resulting in about 30,000 cases in the United States at any one time. Unfortunately, ALS is difficult to diagnose in the early stages. Some patients take over a year from the first onset of symptoms for ALS to receive an accurate diagnosis, with up to 68% of ALS patients initially misdiagnosed. Patients are often shuttled between medical specialists before finally being evaluated by a neurologist with ALS experience. 

A new rapid blood test for ALS has been developed by scientists at the not-for-profit Brain Chemistry Labs in Jackson Hole, Wyoming. Based on analysis of 788 patient blood samples, including 393 ALS patients and 395 age- and gender-matched healthy controls, this new test can identify a person who has ALS with 97% accuracy from a single blood draw. In addition, this new test can also rule out patients who do not have ALS.

This new test is based on microRNA, short genetic sequences that typically function to modulate protein synthesis. This approach opens up the possibility of diagnosing ALS at the earliest possible stages.

Although 10% of ALS patients have a familial history, 90% of ALS patients are sporadic, with no known family history. Currently, there are no commercially available ALS tests that can identify sporadic patients early in the course of the disease. This new miRNA test is equally accurate for sporadic and familial cases.

“For ALS, which typically results in loss of life within 2-5 years from the appearance of symptoms, a delay of one year in receiving a diagnosis is simply unacceptable,” explains Dr. Rachael Dunlop, first author of the new publication in the current issue of Molecular Neurobiology. “This new test means that patients can initiate therapy early in the disease.”

“The ALS patient population is deeply underserved,” adds Dr. Paul Alan Cox who is Executive Director and co-founder of the Brain Chemistry Labs. “That’s why as a not-for-profit organization we have doggedly pursued development of this new diagnostic test.”

“We are seeking to identify a diagnostic firm to make this test commercially available,” said Dr. Sandra Banack, who with Dr. Dunlop presented these new results at the International Symposium on ALS/MND in San Diego last week. 

Based on pioneering ethnobotanical studies of neurological diseases in small island villages, the Brain Chemistry Labs has adopted unique approaches to the prevention, diagnosis, and treatment of progressive neurodegenerative diseases including Alzheimer’s, Parkinson’s, and ALS. “Although we know our studies on Alzheimer’s and Parkinson’s will be much more attractive to big pharma, we refuse to leave these ALS patients behind,” said Dr. Cox.