Lysosomal Acid Lipase (LAL) Deficiency Registry

Lysosomal Acid Lipase Deficiency Clinical Trial

— ALX-LALD-501  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01633489
• Other study ID #: ALX-LALD-501
• Status: Recruiting
• Start date: December 31, 2012
• Est. completion date: June 30, 2029

Study information

• Verified date: July 2023
• Source: Alexion
• Contact: Alexion Pharmaceuticals, Inc.
• Email: clinicaltrials[@]alexion.com
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: June 30, 2029
• Est. primary completion date: June 30, 2029
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
• Acid Lipase Deficiency
• Cholesterol Ester Storage Disease
• LAL-Deficiency
• LIPA Deficiency
• Lysosomal Acid Lipase Deficiency
• Wolman Disease

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Alexion

Countries where clinical trial is conducted

United States,  Australia,  Belgium,  Brazil,  Canada,  Croatia,  Czechia,  Denmark,  France,  Germany,  Greece,  Ireland,  Israel,  Italy,  Mexico,  Netherlands,  Poland,  Portugal,  Saudi Arabia,  Slovenia,  Spain,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Understanding of the variability, progression, identification and natural history of LAL Deficiency.		Ongoing

External Links

•   Alexion Website
•   LAL Deficiency Registry