Simple ALS Diagnostic Blood Test Delivers Robust and Reproducible Results

Amyotrophic Lateral Sclerosis (ALS) is a rare, paralyzing neurological condition that often affects people during their prime years. Delay in reaching a definitive diagnosis can significantly impact patients who generally survive only 2-5 years after diagnosis. Currently, diagnosing ALS involves multiple clinical examinations by a neurologist to determine disease progression, and misdiagnosis can result in delayed treatment. Now, a simple blood test for ALS that can be conducted in a doctor's office could expedite referrals to neurological specialists for confirmation, allowing patients to receive treatment sooner.

Scientists at Brain Chemistry Labs (Jackson Hole, WY, USA) have developed the test based on analysis of blood samples from 70 ALS patients and 70 controls. The test accurately identifies patients with ALS by analyzing small genetic fragments known as microRNA. MicroRNA is extracted from small particles in the bloodstream called extracellular vesicles, which safeguard the genetic material from degradation. A unique protein, L1CAM, enables the concentration of particles that are diagnostic of ALS. The test is reliable and reproducible, and it can also be utilized in clinical trials to assess the effectiveness of new drug treatments for ALS—a disease for which there is currently no cure.

“This test will assist neurologists in making a definitive and rapid diagnosis of ALS,” said lead author Dr. Rachael Dunlop.

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