▲ (from the left) Professors Beom Hee Lee and Soojin Hwang of the Medical Genetics Center

A research team led by Professors Beom Hee Lee and Soojin Hwang of the Medical Genetics Center at Asan Medical Center recently published findings from a long-term study that ambroxol, a common ingredient in cold medicine, effectively treats neurological symptoms of Gaucher disease. Gaucher disease is a rare genetic disorder where the body’s cells lack the enzyme glucocerebrosidase, accumulating specific glycolipids. While treatments have been developed, there has been no way to address neurological symptoms.

Starting in 2013, the research team studied 6 Gaucher disease patients with neurological symptoms for about 10 years, combining the standard enzyme replacement therapy with ambroxol treatment. The results showed that, initially, patients experienced seizures 5 times every 2 weeks, but after 5 years of combination treatment, it was reduced to twice. After 9 years, seizures disappeared entirely. Patients with more advanced neurological symptoms also experienced a significant reduction in seizures, from about 10 seizures every 2 weeks to 5 times after 10 years of treatment.

Additionally, the research team measured the patients’ Gaucher disease quality-of-life scores (mSST). The average score in patients with early neurological symptoms was 7.5 points, which dropped to 6 over 10 years of combination treatment. Patients with advanced neurological symptoms saw a reduction from an average of 17 to 11. A lower mSST score indicates a higher quality of life.

▲ Professors Beom Hee Lee is consulting a patient with Gaucher disease

While previous studies have shown that ambroxol-based medications are effective in treating neurological symptoms, no long-term research findings have been released so far.

Professor Beom Hee Lee stated, “As about 5% of Parkinson’s patients are known to be genetic carriers of Gaucher disease, I hope this study would aid in developing effective treatments for Gaucher disease and Parkinson’s’ disease.”

The research findings were recently published in the international academic journal, ‘American Journal of Hematology.’