Infantile onset lysosomal acid lipase deficiency (LALD) / Wolman disease

Full Study Name

An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency

Study ID



Alexion Pharmaceuticals Inc.

Local Principal Investigator

Simon Jones

Study Status

Active but not recruiting

Main Aims

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

Inclusion Criteria
  • Male or female child with a documented decreased LAL activity relative to the normal range of the lab performing the assay or documented result of molecular genetic testing (2 mutations) confirming a diagnosis of LAL Deficiency.
  • Growth failure* with onset before 6 months of age, as defined by:
    • weight decreasing across at least 2 of the 11 major centiles on a standard World Health Organization (WHO) weight-for-age (WFA) chart (1st, 3rd, 5th, 10th, 25th, 50th, 75th, 90th, 95th, 97th, 99th);
    • OR body weight in kg below the 10th centile on a standard WHO WFA chart AND no weight gain for the 2 weeks prior to screening;
    • OR loss of > 5% of birth weight in a child who is older than 2 weeks of age.
Exclusion Criteria
  • Clinically important concurrent disease or co-morbidities which, in the opinion of the Investigator and Sponsor, would interfere with study participation, including, but not restricted to, congestive heart failure, ongoing circulatory collapse requiring inotropic support, acute or chronic renal failure, additional severe congenital abnormality, or other extenuating circumstances such as life-threatening under nutrition or rapidly progressive liver disease.
  • Subject is > 24 months of age. (Note: Subjects > 8 months of age on the date of first infusion will not be eligible for the primary efficacy analysis.)
  • Has received an investigational medicinal product other than sebelipase alfa within 14 days prior to the first dose of sebelipase alfa in this study.
  • Myeloablative preparation, or other systemic pre-transplant conditioning, for hematopoietic stem cell or liver transplantation.
  • Previous hematopoietic stem cell or liver transplant.
  • Known hypersensitivity to eggs.
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