RecruitingNCT05619900
Metabolic
Wolman Disease
Also known as LAL deficiency, lysosomal acid lipase deficiency, cholesterol ester storage disease, LIPA deficiency
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, particu
ORPHA:75233 ↗Gene LIPAPrevalence 1-9 per 1,000,000 (Orphanet)Onset InfantileAutosomal recessive genetic
3
studies recruiting now
as of 7 Sept 2026
38
studies registered in total
as of 7 Sept 2026
22
countries with a recruiting site
as of 7 Sept 2026
17 Nov 2022
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1NCT04532047
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
RecruitingNCT01633489
Lysosomal Acid Lipase (LAL) Deficiency Registry
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
HepatosplenomegalyAdrenal calcificationVomitingDiarrheaFailure to thriveAnemiaLiver failure
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2/3Sebelipase Alfa (Kanuma)
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Phase 2/3Busulfan (Busilvex)
Before you apply
Things trial teams commonly ask about for Wolman Disease. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).