Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Patients With Lysosomal Acid Lipase Deficiency

• Safety and Tolerability of SBC-102 (sebelipase alfa) [ Time Frame: 4 weeks ] [ Designated as safety issue: Yes ]
  The safety and tolerability of weekly infusions of SBC-102 (sebelipase alfa) will be assessed by routine monitoring of patients for adverse events (AEs) and monitoring changes from baseline in physical examination findings, vital signs, clinical laboratory evaluations, immunogenicity tests and concomitant therapies.
  
  

• Pharmacokinetics of SBC-102 (sebelipase alfa) [ Time Frame: 4 weeks ] [ Designated as safety issue: No ]
  Characterize the pharmacokinetics of SBC-102 (sebelipase alfa) delivered by IV infusion after single and multiple doses.
  
  

Cholesteryl Ester Storage Disease (CESD) is the late onset phenotype for Lysosomal Acid Lipase (LAL) Deficiency, a Lysosomal Storage Disorder, which also has an early onset phenotype known as Wolman Disease that primarily affects infants. CESD can present in childhood but often goes unrecognized until adulthood when the underlying pathology is advanced. Many of the signs and symptoms are common to patients with other liver conditions.

CESD is an autosomal recessive genetic condition and is characterized by hepatomegaly, persistently abnormal liver function tests (LFTs) and type II hyperlipidemia. Splenomegaly and evidence of mild hypersplenism may affect some patients. Untreated, CESD may lead to fibrosis, cirrhosis, liver failure and death.

Disease Risk In Families:

• 25 per million incidence
• Autosomal recessive disorder, LAL deficiency is carried on chromosome 10
• Parents with an affected son or daughter have a 1 in 4 chance of having another affected child