Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency

• Long term safety of SBC-102 including incidence of adverse events [ Time Frame: 3 years ] [ Designated as safety issue: Yes ]
  The safety and tolerability of infusions of SBC-102 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.
  
  

• Changes in liver and spleen volume and fat content. [ Time Frame: 3 years ] [ Designated as safety issue: No ]
  
• Characterize the pharmacokinetics (e.g. AUC, Cmax, T1/2) of multiple doses of SBC-102 delivered by IV infusion. [ Time Frame: Pre-dose, 10, 15, 20, 40, 60 and 90 minutes during the infusion, the end of the infusion, and at 5, 10, 20, 30, 40, 60 and 120 minutes after completion of the infusion ] [ Designated as safety issue: No ]
  
• Asses pharmacodynamics of SBC-102 on specified biomarkers, including change in transaminases, serum lipids and acute phase reactants. [ Time Frame: 3 years ] [ Designated as safety issue: No ]
  

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.