A new blood test developed by scientists at Brain Chemistry Labs in Jackson Hole, Wyoming, could help diagnose amyotrophic lateral sclerosis (ALS) earlier and more accurately. ALS is a rare disease that affects about 30,000 people in the United States at any given time. The disease causes paralysis by destroying motor neurons, and most patients face significant delays in diagnosis.
Currently, many ALS patients are misdiagnosed or spend over a year seeing various specialists before getting an accurate diagnosis from a neurologist familiar with the disease. Up to 68% of patients are initially diagnosed incorrectly.
The new test analyzes microRNA—short genetic sequences involved in protein synthesis—from a single blood sample. In research involving 788 participants (393 with ALS and 395 healthy controls), the test identified ALS with 97% accuracy. It can also reliably rule out those who do not have the disease.
This method is effective for both familial cases (about 10% of ALS diagnoses) and sporadic cases (the remaining 90%), for which no early commercial tests currently exist.
"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," said Dr. Rachael Dunlop, first author of the study published in Molecular Neurobiology. "This new test means that patients can initiate therapy early in the disease."
Dr. Paul Alan Cox, Executive Director and co-founder of Brain Chemistry Labs, commented: "The ALS patient population is deeply underserved. That's why as a not-for-profit organization we have doggedly pursued development of this new diagnostic test."
Dr. Sandra Banack noted that they are seeking a diagnostic firm to make the test commercially available. She and Dr. Dunlop presented their findings at the International Symposium on ALS/MND in San Diego last week.
Brain Chemistry Labs has previously focused on neurological diseases through ethnobotanical studies and continues to work on Alzheimer's and Parkinson's research as well as ALS. Dr. Cox added: "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."
