A blood diagnostic test for amyotrophic lateral sclerosis (ALS) has been developed that can rapidly distinguish ALS from conditions that mimic ALS in its early stages with a high level of specificity and sensitivity.
Researchers from the Brain Chemistry Labs (BCL), a nonprofit in Jackson Hole, WY, have published their findings in Brain Communications.
ALS is a progressive neurodegenerative disease that affects motor neurons in the brain and spinal cord. It causes progressive paralysis as neurons degenerate and die and is ultimately fatal. A diagnosis is currently made based on clinical examination by tracking symptom progression; however, diagnosis may be slow, and initial misdiagnosis is common, as it may be difficult to distinguish ALS from other neurodegenerative disorders.
As the average survival time for patients with ALS is three years, holdups in diagnosing ALS result in delayed treatment, during which time patients may rapidly deteriorate, the BCL researchers noted in a statement. A quicker diagnosis would lead to improved quality of life and lessened anxiety for ALS patients, say the researchers. Furthermore, receiving negative results would have a significant impact on patients who are ultimately diagnosed with other disorders as well.
"Rapid diagnosis will allow treatment to begin earlier, leading to better outcomes for ALS patients," senior author Dr. Sandra Banack said.
The test developed by the BCL team entails a blood draw and is based on an ALS-specific biomarker "fingerprint" in eight microRNA sequences that the researchers identified through analyzing ALS patient samples.
The ALS biomarker fingerprint was tested in four independent experiments comparing ALS and normal control samples; in total, 471 samples were used, many of which were provided by the U.S. National ALS Biorepository. The test consistently provided reliable results in all four trials.
According to Dr. Paul Alan Cox, BCL's executive director, the team hopes to secure a partnership with a diagnostics firm to make the test widely available to neurologists within 18 to 24 months.
