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

Full Study Name

A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive 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 safety and tolerability of sebelipase alfa in infants with rapidly progressive LAL Deficiency.

Inclusion Criteria
  • Confirmation of documented decreased LAL activity relative to the normal range of the lab performing the assay or a documented result of molecular genetic testing confirming a diagnosis of LAL Deficiency.
  • Substantial clinical concerns, in the opinion of Investigator and Sponsor, of rapid disease progression requiring urgent medical intervention including, but not restricted to, the following:
    1. Marked abdominal distension and hepatomegaly
    2. Failure to thrive as evidenced by:
      1. Weight for height is 2 or more SD below the mean for gender and age
      2. Weight curve has crossed downward by more than 2 majorpercentile lines on the WHO growth curves (1st, 3rd, 5th, 10th, 25th, 50th, 75th, 90th, 95th, 97th, 99th) after having previously achieved a stable pattern of growth
    3. Disturbance of coagulation (e.g., requirement for FFP; two values of PT > 15 sec or PTT > 40 sec)
    4. Severe anemia (e.g., requirement for blood transfusion or hemoglobin < 8 g/dL)
    5. Sibling with rapidly progressive course of LAL Deficiency
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:

    • Additional severe congenital abnormality
    • Presence of severe infection that requires treatment with parenteral anti-infective treatment within the past 14 days
    • Previous history of circulatory collapse requiring inotropic support for
      more than 48 hours
    • Congestive heart failure
    • Acute or chronic renal failure
    • Other extenuating circumstances such as life-threatening under nutrition or rapidly progressive liver disease
  • Subject will be > 8 months of age at the time of first dosing.
  • Subject 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.
Open Sites

Manchester, Birmingham

For more information click here