What Research Is Being Done on ALS? — Page 3

Biomarkers of ALS

Biomarkers are substances — including blood, urine, or cerebrospinal fluid — that provide a window into the state of a disease. The markers can help doctors diagnose a condition early, monitor its progress, and evaluate treatment effectiveness. Biomarkers are particularly critical in ALS because amyotrophic lateral sclerosis symptoms can mimic those of other neurological conditions and delay the diagnosis.

Finding biomarkers can help scientists eventually better identify people at risk for ALS and research therapies and a potential cure.

There are no standard biomarkers for ALS, making it difficult to diagnose the disease early and follow its progression. Researchers are looking for possible ALS biomarkers.

Several potential biomarkers are under investigation, including some found in the blood and the brains of patients. The results hold promise for both diagnosing and treating ALS. For example, researchers at Massachusetts General Hospital are using positron emission tomography (PET scans) to measure inflammation in the brains of ALS patients.

“Inflammation is an important target for ALS drug development, and we believe imaging inflammation may allow us to design and conduct efficient ALS clinical trials and will accelerate the pace of ALS drug discovery,” said neurologist Nazem Atazzi, MD.

Atazzi and colleagues have also found the depletion of a protein called TDP-43 may serve as a biomarker for ALS. TDP-43 normally binds to RNA, the nucleic acid present in all living cells that acts as a messenger for normal DNA expression. The researchers found a genetic link between loss of normal TDP-43 function, which may influence the development of ALS.

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