The CMT Research Foundation has funded a new study at Johns Hopkins University to find a blood-based biomarker that could measure whether future CMT treatments are working. The research, targeted at subtype CMT2C, is led by Dr. Jeremy Sullivan and Dr. Charlotte Sumner. 

CMT2C is caused by a genetic mutation that makes a protein called TRPV4 behave abnormally, gradually damaging the nerves that control movement in the arms, legs, diaphragm, and vocal folds. Drugs that block this faulty protein are already being developed for clinical trials, but researchers currently have no reliable way to tell, from a simple test, whether those drugs are having an effect in patients. 

Drs. Sullivan and Sumner aim to change that. The research team has found that the abnormal TRPV4 protein damages the protective barrier between the blood and the nervous system, causing certain proteins to leak into the bloodstream. These leaked proteins may act as markers of disease activity, rising as the disease progresses and falling when a treatment works. By studying pre-clinical models that feature the same genetic mutation as CMT2C patients, their team will identify which specific proteins in the blood can be used to track disease progression and treatment response. 

“Robust and accessible biomarkers represent a key element of therapeutics development and clinical trial design. We are excited to undertake these studies aimed at accelerating the development of TRPV4 blockers as a therapeutic strategy for patients with CMT2C.” — Dr. Jeremy Sullivan, Johns Hopkins University 

Finding a reliable blood-based marker would make clinical trials more efficient and give doctors a straightforward way to evaluate whether a treatment is working, bringing effective therapies to patients faster.