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for people ages 4 years and up (full criteria)
at San Francisco, California and other locations
study started
estimated completion:



This Phase 3 study will evaluate the efficacy and safety of 1 mg/kg IV infusions of SBC-102 (sebelipase alfa) administered every other week in patients with late onset lysosomal acid lipase (LAL) deficiency (cholesteryl ester storage disease). Late onset LAL Deficiency is an underappreciated cause of cirrhosis, liver failure and dyslipidemia. There is currently no standard treatment for LAL Deficiency other than supportive care. Enzyme replacement therapy (ERT) may be a potential new treatment option for LAL Deficiency patients.

Official Title

A Multicenter, Randomized, Placebo-Controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency


Lysosomal Acid Lipase Deficiency (LALD) is a genetic disease which is characterized by abnormal lipid accumulation in many parts of the body due to a marked decrease in activity of the enzyme lysosomal acid lipase (LAL). Although a single disease, LALD presents with two major forms: early onset and late onset. Early onset LALD, also known as Wolman Disease, is characterized by severe malabsorption, growth failure, and hepatic failure and is usually fatal within the first year of life.

The late onset form of the disease, also known as Cholesteryl Ester Storage Disease (CESD), occurs in both children and adults and is an under-appreciated cause of fatty liver with prominent microvesicular steatosis and cirrhosis. Although the natural history of the disease has not been well studied, serious liver complications are frequently described including early death and liver transplantation. Other complications includes premature atherosclerosis (hardening of arteries) associated with high levels of total cholesterol and low-density lipoprotein (LDL) cholesterol, often called the "bad" cholesterol. The levels of triglycerides can also be high and the levels of high-density lipoprotein (HDL) cholesterol (the "good" cholesterol) are typically low.

Current treatments mainly focus on control of the lipid abnormalities through diet and the use of lipid lowering medications. New treatments are needed for patients with LALD as current treatments only address some aspects of the disease and disease progression to cirrhosis still occurs. In pre-clinical studies and studies in patients with LALD, treatment with SBC-102 (sebelipase alfa) has been shown to produce improvements in markers of liver damage and in the lipid abnormalities. The purpose of this study is to examine the effects of using SBC-102 to treat late onset LALD (CESD) through a placebo-controlled, randomized, double-blinded study in both affected children and adults.


Cholesterol Ester Storage Disease (CESD) Lysosomal Acid Lipase Deficiency Enzyme Replacement Therapy (ERT) Lysosomal Storage Disease Late Onset Lysosomal Acid Lipase (LAL) Deficiency Acid cholesteryl ester hydrolase deficiency, type 2 Acid lipase disease Cholesterol ester hydrolase deficiency LAL Deficiency LIPA Deficiency Wolman disease Cholesterol Ester Storage Disease


You can join if…

Open to people ages 4 years and up

  • Subject and/or subject's parent or legal guardian provides informed consent
  • Subject is ≥4 years of age
  • Deficiency of LAL enzyme activity confirmed by dried blood spot (DBS) testing at screening
  • ALT ≥1.5x ULN
  • Female subjects of childbearing potential must not be pregnant or breastfeeding
  • Subjects receiving lipid-lowering therapies must be on a stable dose of the medication
  • Subjects receiving medications for the treatment of non-alcoholic fatty liver disease must be on a stable dose

You CAN'T join if...

  • Severe hepatic dysfunction (Child-Pugh Class C)
  • Other medical conditions or comorbidities which, in the opinion of the Investigator,would interfere with study compliance or data interpretation
  • Previous hematopoietic or liver transplant procedure
  • Received treatment with high-dose corticosteroids (acute or chronic) within 26 weeks.(Note: Subjects receiving maintenance therapy with low-dose oral, intranasal, topical,or inhaled corticosteroids are considered eligible for the study)
  • Known hypersensitivity to eggs
  • Participated in a study employing an investigational medicinal product within 4 weeks prior to randomization


  • San Francisco, California, United States
  • Palo Alto, California, United States


in progress, not accepting new patients
Start Date
Completion Date
Alexion Pharmaceuticals
Phase 3
Lead Scientist
John Kane
Study Type
Last Updated
February 13, 2017