Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting

Lysosomal Acid Lipase (LAL) Deficiency Registry (ALX-LALD-501)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by Alexion Pharmaceuticals
Information provided by (Responsible Party):
Alexion Pharmaceuticals Identifier:
First received: June 29, 2012
Last updated: September 28, 2016
Last verified: September 2016
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.

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

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 15 Years
Official Title: An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency

Resource links provided by NLM:

Further study details as provided by Alexion Pharmaceuticals:

Primary Outcome Measures:
  • Understanding of the variability, progression, identification and natural history of LAL Deficiency. [ Time Frame: Ongoing ] [ Designated as safety issue: No ]

Estimated Enrollment: 1000
Study Start Date: December 2012
Estimated Study Completion Date: June 2029
Estimated Primary Completion Date: June 2029 (Final data collection date for primary outcome measure)
LAL Deficiency patients
Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.

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.


Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients with a diagnosis of LAL Deficiency.

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01633489

Contact: Alexion Pharmaceuticals, Inc.
Contact: Genevieve Doster

United States, Georgia
Decatur, Georgia, United States, 30033
United States, Illinois
Chicago, Illinois, United States
United States, Texas
Houston, Texas, United States
United States, Virginia
Fairfax, Virginia, United States
Bron, France
Mainz, Germany
Genova, Italy
Milano, Italy
Torino, Italy
Amsterdam, Netherlands
United Kingdom
Cambridge, United Kingdom
Greater Manchester, United Kingdom
Sponsors and Collaborators
Alexion Pharmaceuticals
Study Director: Alexion Pharmaceuticals Sponsor GmbH
  More Information

Additional Information:
Responsible Party: Alexion Pharmaceuticals Identifier: NCT01633489     History of Changes
Other Study ID Numbers: ALX-LALD-501 
Study First Received: June 29, 2012
Last Updated: September 28, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: No

Additional relevant MeSH terms:
Cholesterol Ester Storage Disease
Wolman Disease
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Lipid Metabolism Disorders
Metabolic Diseases
Infant, Newborn, Diseases processed this record on October 28, 2016