Lysosomal Acid Lipase Deficiency Clinical Trial
Official title:
An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency. Eligible participants received once-weekly (qw) infusions of sebelipase alfa for up to 5 years.
LAL Deficiency is a rare autosomal-recessive lipid storage disorder that is caused by a
marked decrease or almost complete absence of LAL, leading to the accumulation of lipids,
predominately cholesteryl esters and triglycerides, in various tissues and cell types. In the
liver, accumulation of lipids leads to hepatomegaly, liver dysfunction, and hepatic failure.
Although a single disease, LAL Deficiency presents as a clinical continuum with 2 major
phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease.
Early-onset LAL Deficiency (Wolman Disease) is extremely rare, with an estimated incidence of
less than 2 lives per million. It is characterized by profound malabsorption, growth failure,
and hepatic failure, and is usually fatal in the first year of life.
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