Lysosomal Acid Lipase (LAL) Deficiency Registry

Brief Title

Lysosomal Acid Lipase (LAL) Deficiency Registry

Official Title

An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency

Brief Summary

      This is an observational, multi-center, international disease registry designed to collect
      longitudinal data and create a knowledge base that will be utilized to improve the care and
      treatment of patients with LAL Deficiency. Participation in the Registry by both physicians
      and patients is voluntary.

Detailed Description

      Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lysosomal storage
      disorder (LSD) that is caused by a marked decrease of lysosomal acid lipase (LAL), the enzyme
      that breaks down cholesteryl esters and triglycerides in the lysosomes.

      Lysosomal Acid Lipase Deficiency presenting in infants (historically called Wolman Disease)
      is a medical emergency with rapid disease progression over a period of weeks that is
      typically fatal within the first 6 months of life. More commonly, LAL Deficiency presents in
      children and adults and this presentation has been historically called Cholesteryl Ester
      Storage Disease (CESD). In general, data on the prevalence of LAL Deficiency are limited, and
      the overall prevalence of the disease in the population is unclear.

      For all presentations, LAL Deficiency is associated with significant morbidity and mortality.
      Deficient LAL enzyme activity results in the lysosomal accumulation of cholesteryl esters and
      triglycerides. In the liver, this accumulation leads to hepatomegaly, increased hepatic fat
      content, transaminase elevation signaling chronic liver injury, and progression to fibrosis,
      cirrhosis, and complications of end stage liver disease. In the spleen, LAL Deficiency
      results in splenomegaly, anemia, and thrombocytopenia. Lipid accumulation in the intestinal
      wall leads to malabsorption and growth failure. Dyslipidemia is common with elevated low
      density lipoprotein (LDL) and triglycerides and low high density lipoprotein (HDL),
      associated with increased liver fat content and transaminase elevations. In addition to liver
      disease, patients with LAL Deficiency experience increased risk for cardiovascular disease
      and accelerated atherosclerosis.

      The LAL Deficiency Registry is a global registry, established to help improve care for
      patients through improved understanding of the disease and long-term effectiveness of
      therapeutic interventions including sebelipase alfa.

      As with other registries, which are becoming increasingly valuable for collecting information
      in large, heterogeneous, 'real world' populations, the LAL Deficiency Registry aims to
      provide evidence to help support patient care and inform clinical practice. This Registry is
      also being conducted, in part, to fulfill post-marketing commitments and requirements agreed
      to by the Sponsor as a condition for sebelipase alfa approval in the EU and the USA.

Study Type

Observational [Patient Registry]

Primary Outcome

Understanding of the variability, progression, identification and natural history of LAL Deficiency.


Lysosomal Acid Lipase Deficiency

Study Arms / Comparison Groups

 LAL Deficiency patients
Description:  Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

December 31, 2012

Completion Date

June 30, 2029

Primary Completion Date

June 30, 2029

Eligibility Criteria

        Patients must have a confirmed diagnosis of LAL Deficiency. An Informed Consent and
        Authorization must be obtained prior to patient enrollment where required under applicable
        laws and regulations, or a waiver must be obtained by the Institutional Review
        Board/Independent Ethics Committee.

        Patients cannot be currently participating in an Alexion-sponsored clinical trial. Patients
        who have concluded participation in an Alexion-sponsored sebelipase alfa clinical trial are
        eligible to enroll in this Registry, and enrollment in the Registry will not exclude a
        patient from enrolling in a future clinical trial.




N/A - N/A

Accepts Healthy Volunteers



Alexion Pharmaceuticals, , [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Alexion Pharmaceuticals

Study Sponsor

Alexion Pharmaceuticals, Study Director, Sponsor GmbH

Verification Date

July 2022