About Wolman Disease
Wolman disease is a severe infantile form of lysosomal acid lipase (LAL) deficiency caused by mutations in the LIPA gene. Without LAL enzyme activity, cholesterol esters and triglycerides accumulate in lysosomes throughout the body, particularly in the liver, spleen, adrenal glands, and intestines. Untreated, Wolman disease is fatal within the first year of life; sebelipase alfa (Kanuma), an enzyme replacement therapy, is approved for treatment.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Wolman Disease trials.
Sebelipase alfa (Kanuma) is approved — trials may focus on dose optimization, long-term outcomes, or next-generation therapies
LAL enzyme activity below 0.02 nmol/punch/hour on dried blood spot is a standard diagnostic and eligibility criterion
Adrenal calcification confirmed by imaging is a key disease marker often required for trial documentation
Distinguish between infantile Wolman disease and milder cholesterol ester storage disease (CESD) — trials are often disease-form specific
Patient Resources
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