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Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102

This study has been terminated.
(Study has been merged with NCT01371825)
Information provided by (Responsible Party):
Alexion Pharmaceuticals Identifier:
First received: November 10, 2011
Last updated: February 17, 2017
Last verified: February 2017
This phase 2/3, open-label extension study will evaluate the long-term efficacy and safety of intravenous (IV) infusions of SBC-102 in children with Lysosomal Acid Lipase (LAL) Deficiency who previously received treatment with SBC-102.

Condition Intervention Phase
Lysosomal Acid Lipase Deficiency
Wolman Disease
Drug: SBC-102
Phase 2
Phase 3

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: No masking
Primary Purpose: Treatment
Official Title: An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102

Resource links provided by NLM:

Further study details as provided by Alexion Pharmaceuticals:

Primary Outcome Measures:
  • Overall survival [ Time Frame: 12 months ]

Secondary Outcome Measures:
  • Survival rates at periodic intervals and median survival time. [ Time Frame: 3 years ]
  • Long-term safety of SBC-102 in children with growth failure due to LAL Deficiency [ Time Frame: 3 years ]

Enrollment: 10
Study Start Date: November 2011
Study Completion Date: January 2015
Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: SBC-102
SBC-102 Weekly IV infusions of SBC-102
Drug: SBC-102
SBC-102 is a recombinant human lysosomal acid lipase (rhLAL). The investigational medicinal product is an enzyme replacement therapy intended for treatment of patients with LAL Deficiency.
Other Names:
  • Kanuma
  • Sebelipase Alfa

Detailed Description:

Early onset LAL Deficiency is a very rare form of LAL Deficiency, with an estimated prevalence of less than 2 lives per million (Meikle et al., 1999). This form of the disease, named after the physician who first described it (Abramov et al., 1956), is the most aggressive presentation of LAL Deficiency and is characterized by gastrointestinal and hepatic manifestations including marked growth failure, malabsorption, steatorrhea, and hepatomegaly. Early onset LAL Deficiency is rapidly progressive and fatal usually within the first year of life (Assmann & Seedorf, 2001).

The primary objective of the study is to evaluate the effect of SBC-102 therapy on overall survival at 12 months of age in children with growth failure due to LAL Deficiency.

All subjects will receive repeat IV infusions of SBC-102, beginning at least 1 week after the preceding infusion in study LAL-CL03 or under an expanded access treatment regimen.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Subject's parent or legal guardian provides written consent/permission prior to any study procedures
  • Subject completed treatment in study LAL-CL03 or Subject received treatment with SBC-102 for at least 4 months under an expanded access treatment regimen
  • Subject had no life-threatening or unmanageable study drug toxicity during treatment with SBC-102 under LAL-CL03 or expanded access treatment regimen.

Exclusion Criteria:

  • Clinically important concurrent disease
  • Myeloablative preparation, or other systemic pre-transplant conditioning, for hematopoietic stem cell or liver transplantation
  • Previous hematopoietic stem cell transplant.
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Please refer to this study by its identifier: NCT01473875

Hopital Necker Enfants Malades
Paris, France
United Kingdom
St. Mary's Hospital, Central Manchester University Hospitals
Manchester, United Kingdom
Sponsors and Collaborators
Alexion Pharmaceuticals
  More Information

Additional Information:
Responsible Party: Alexion Pharmaceuticals Identifier: NCT01473875     History of Changes
Other Study ID Numbers: LAL-CL05
Study First Received: November 10, 2011
Last Updated: February 17, 2017
Individual Participant Data  
Plan to Share IPD: Undecided

Keywords provided by Alexion Pharmaceuticals:
Wolman Disease
Acid Lipase Deficiency
Acid Cholesteryl Hydrolase
Acid Lipase Disease Deficiency, type 2
Cholesteryl Ester Storage Disease (CESD)
Cholesteryl Ester Hydrolase Deficiency
Early Onset LAL-Deficiency (Wolman Disease)
LAL Deficiency
Late Onset Lysosomal Acid Lipase Deficiency (CESD)
Wolman Disease (early onset LAL Deficiency)
Wolman Phenotype
Related Disorders:
Non-alcoholic Fatty Liver Disease (NAFLD)
Non-alcoholic Steatohepatitis (NASH)
Alcoholic Liver Disease
Cryptogenic Cirrhosis
Niemann-Pick Disease (NPD) Type C
Chanarin Dorfman Syndrome

Additional relevant MeSH terms:
Wolman Disease
Cholesterol Ester Storage Disease
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Metabolic Diseases processed this record on April 25, 2017