Clinical Trial: Lysosomal Acid Lipase (LAL) Deficiency Registry

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient 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 Summary:

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
Sponsor: Alexion Pharmaceuticals

Current Primary Outcome: Understanding of the variability, progression, identification and natural history of LAL Deficiency. [ Time Frame: Ongoing ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Alexion Pharmaceuticals

Dates:
Date Received: June 29, 2012
Date Started: December 2012
Date Completion: June 2029
Last Updated: February 17, 2017
Last Verified: February 2017