Researchers at the Massachusetts General Hospital Research Institute and the Georgia Institute of Technology are investigating a medication currently approved to treat a type of multiple sclerosis as a possible treatment for mucolipidosis IV. The research is currently at an early stage. The full article can be read here, at Georgia Tech Research Horizons.
Mucolipidosis IV is a genetic metabolic disorder that is estimated to affect 1 in 40,000 people. It is caused by mutations in the MCOLN1 gene. There are two forms of the condition; one known as ‘typical’, that approximately 95% of people affected have, and another called ‘atypical’, which is much less common. Symptoms of mucolipidosis IV tend to appear soon after birth at around three to eight months. The first sign of the condition is often clouding in the eye or unusual eye movements, and these may go unnoticed. Other symptoms that may develop include reduced muscle tone and coordination, intellectual disability, delays reaching developmental milestones, and eye problems. The effects of the disease worsen over time. Currently, there are limited treatment options available for patients.