NCT02193867

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

• Status: Terminated
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 10 (actual)
• Sponsor: Alexion Pharmaceuticals, Inc. · Industry
• Sex: All
• Age: 8 Months
• Healthy volunteers: Not accepted

Summary

This was an open-label, repeat-dose, study of sebelipase alfa in infants with rapidly progressive lysosomal acid lipase deficiency (LAL-D). Eligible participants received once-weekly infusions of sebelipase alfa for up to 3 years.

Detailed description

Lysosomal acid lipase deficiency is a rare autosomal recessive lipid storage disorder that is caused by a marked decrease or complete absence of the LAL enzyme, leading to the accumulation of lipids, predominately cholesteryl esters and triglycerides, in various tissues and cell types. In the liver, accumulation of lipids in hepatocytes and macrophages leads to hepatomegaly, fibrosis, cirrhosis, liver dysfunction, and hepatic failure. In the small intestine, lipid-laden macrophage accumulation in the lamina propria leads to profound malabsorption. Lysosomal acid lipase deficiency presenting in infancy is an extremely rare form of the disease characterized by profound malabsorption, growth failure, and hepatic failure that is usually fatal within the first 6 months of life.

Conditions

• Lysosomal Acid Lipase Deficiency

Interventions

Type	Name	Description
DRUG	Sebelipase Alfa	Sebelipase alfa is a recombinant human lysosomal acid lipase. The investigational medicinal product is an enzyme replacement therapy intended for treatment of participants with LAL-D. Dosing occurred once weekly for up to 3 years.

Timeline

• Start date: 2014-06-06
• Primary completion: 2018-10-30
• Completion: 2018-10-30
• First posted: 2014-07-18
• Last updated: 2019-11-18
• Results posted: 2019-11-18

Locations

5 sites across 4 countries: United States, Finland, Italy, United Kingdom