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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01473875
Recruitment Status : Terminated (Study has been merged with NCT01371825)
First Posted : November 17, 2011
Last Update Posted : February 20, 2017
Information provided by (Responsible Party):
Alexion Pharmaceuticals

Brief Summary:
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 or disease Intervention/treatment Phase
Lysosomal Acid Lipase Deficiency Wolman Disease Drug: SBC-102 Phase 2 Phase 3

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 10 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
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
Study Start Date : November 2011
Actual Primary Completion Date : December 2014
Actual Study Completion Date : January 2015

Arm Intervention/treatment
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

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

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01473875

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

Additional Information:
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Responsible Party: Alexion Pharmaceuticals Identifier: NCT01473875    
Other Study ID Numbers: LAL-CL05
First Posted: November 17, 2011    Key Record Dates
Last Update Posted: February 20, 2017
Last Verified: February 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Keywords provided by Alexion Pharmaceuticals:
Wolman Disease
Wolman Phenotype
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)
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:
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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