Clinical Trial: Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: 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

Brief Summary: This is an open-label, repeat-dose, study of sebelipase alfa in infants with rapidly progressive LAL Deficiency. Eligible subjects will receive once-weekly infusions of sebelipase alfa for up to 3 years.

Detailed Summary:

Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by a marked decrease or almost complete absence of the LAL enzyme, leading to the accumulation of these 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. In the small intestine, lipid-laden macrophage accumulation in the lamina propria leads to profound malabsorption.

LAL Deficiency presenting in infancy is extremely rare form of LAL Deficiency. It is characterized by profound malabsorption, growth failure, and hepatic failure, and is usually fatal in the first 6 months of life. There is currently no safe or effective therapy for the treatment of LAL Deficiency.


Sponsor: Alexion Pharmaceuticals

Current Primary Outcome: Long-term safety [ Time Frame: Up to 3 years ]

  • Incidence of AEs and SAEs
  • Changes from baseline clinical laboratory tests
  • Changes in vitals
  • Physical examination findings
  • Use of concomitant medications


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Survival at 12 months of age [ Time Frame: 12 months ]
  • Survival beyond 12 months of age [ Time Frame: Up to 3 years ]
  • Growth [ Time Frame: Up to 3 years ]
    • changes from baseline in percentiles and/or z-scores for weight for age (WFA), weight for length (WFL)/weight for height(WFH), and length for age (LFA)/height for age (HFA)
    • growth status indicators of underweight, wasting, and stunting
    • changes from baseline in z scores for head circumference-for-age (HCFA) and mid-upper arm circumference-for-age (MUACFA)
  • Hematological parameters [ Time Frame: Up to 3 years ]
    • Changes from baseline in aspartate aminotransferase (AST) and ALT
    • Normalization of hemoglobin levels without requirement for blood transfusion
    • Change from baseline in serum ferritin.
  • Characterize the PK of sebelipase alfa [ Time Frame: Up to 3 years ]
    Cmax of sebelipase alfa


Original Secondary Outcome: Same as current

Information By: Alexion Pharmaceuticals

Dates:
Date Received: July 7, 2014
Date Started: June 2014
Date Completion: June 2018
Last Updated: June 6, 2016
Last Verified: June 2016