ALS, also known as amyotrophic lateral sclerosis or Lou Gehrig’s disease, is a serious and progressive condition that causes the death of nerve cells that control muscles.
It leads to paralysis and eventually affects the ability to move, speak, eat, and even breathe. Thankfully,
ALS is rare. It affects about 1.6 out of every 100,000 adults each year, with around 30,000 people living with the disease in the United States at any one time.
One of the biggest challenges with ALS is that it’s hard to diagnose early. Many patients wait more than a year from when their first symptoms begin to when they get the correct diagnosis.
Nearly 70% of people with ALS are first misdiagnosed with something else. Often, they go from doctor to doctor—seeing many specialists—before finally being referred to a neurologist who recognizes the signs of ALS.
Now, there is some hopeful news. Scientists at Brain Chemistry Labs, a nonprofit research group in Jackson Hole, Wyoming, have developed a new blood test that can identify ALS quickly and with high accuracy. This test was studied using blood samples from 788 people.
Half of them had ALS, and the other half were healthy people of similar age and gender. The results were impressive: the test was able to correctly identify people with ALS 97% of the time using just one blood sample. It was also able to rule out ALS in those who didn’t have the disease.
The test works by looking at molecules called microRNAs. These are short pieces of genetic material that help control how proteins are made in the body. By detecting changes in certain microRNAs in the blood, the test can find signs of ALS even in its early stages.
What makes this test even more valuable is that it works for both types of ALS. Around 10% of ALS cases are inherited from family, but 90% are “sporadic,” meaning they happen in people with no known family history. Until now, there have been no commercial tests that can catch these sporadic cases early. This new test is accurate for both types.
Dr. Rachael Dunlop, the lead author of the new study published in the journal Molecular Neurobiology, says that waiting a year for a diagnosis is not acceptable for ALS, since the disease often leads to death within 2 to 5 years after symptoms start. She believes this test could allow people to begin treatment much earlier, which may improve outcomes.
Dr. Paul Alan Cox, who co-founded Brain Chemistry Labs, says that ALS patients have long been underserved, and that’s why his team has worked so hard to develop this tool. The research team, including Dr. Sandra Banack, presented their findings recently at the International Symposium on ALS/MND in San Diego.
The next step is to partner with a diagnostic company to make the test available to doctors and patients everywhere. If successful, this could mark a turning point in how ALS is diagnosed and treated.
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The study is published in Molecular Neurobiology.
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