Clinical trial aims to give LAL deficiency patients a new alternative

lysosomal acid lipase LAL deficiency Edward NeilanAbout 1 in 10 Americans have some form of liver disease. One rare, under-recognized disorder, lysosomal acid lipase (LAL) deficiency—which prompts a build-up of fat and cholesterol in the liver, spleen and other parts of the body—can fly under the radar until it becomes life-threatening, often requiring a liver transplant.

“LAL deficiency, to some degree, begins at birth and slowly damages the liver to the point where patients who were asymptomatic no longer have enough liver function and drop off the edge,”  Edward Neilan, MD, PhD, of Boston Children’s Hospital’s Metabolism Program recently told the Vector blog. Symptoms, he adds, “might not appear until you are 30 years old.”

Neilan is the Boston Children’s principal investigator for an international clinical trial for children with LAL deficiency. Learn more about LAL deficiency and the trial on Vector.