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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01633489
Recruitment Status : Recruiting
First Posted : July 4, 2012
Last Update Posted : July 29, 2022
Information provided by (Responsible Party):

Tracking Information
First Submitted Date June 29, 2012
First Posted Date July 4, 2012
Last Update Posted Date July 29, 2022
Actual Study Start Date December 31, 2012
Estimated Primary Completion Date June 30, 2029   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 13, 2013)
Understanding of the variability, progression, identification and natural history of LAL Deficiency. [ Time Frame: Ongoing ]
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
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]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 10 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population All patients with a diagnosis of LAL Deficiency.
  • Lysosomal Acid Lipase Deficiency
  • Cholesterol Ester Storage Disease
  • Wolman Disease
  • Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
  • Acid Lipase Deficiency
  • LIPA Deficiency
  • LAL-Deficiency
Intervention Not Provided
Study Groups/Cohorts LAL Deficiency patients
Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.
Publications * Soll D, Spira D, Hollstein T, Haberbosch L, Demuth I, Steinhagen-Thiessen E, Bobbert T, Spranger J, Kassner U. Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report. Mol Genet Metab Rep. 2019 Jun 18;20:100479. doi: 10.1016/j.ymgmr.2019.100479. eCollection 2019 Sep.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 3, 2012)
Original Estimated Enrollment Same as current
Estimated Study Completion Date June 30, 2029
Estimated Primary Completion Date June 30, 2029   (Final data collection date for primary outcome measure)
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.

Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contact: Alexion Pharmaceuticals, Inc. clinicaltrials@alexion.com
Listed Location Countries Australia,   Belgium,   Brazil,   Canada,   Croatia,   Czechia,   Denmark,   France,   Germany,   Greece,   Ireland,   Israel,   Italy,   Mexico,   Netherlands,   Poland,   Portugal,   Saudi Arabia,   Slovenia,   Spain,   United Kingdom,   United States
Removed Location Countries Switzerland
Administrative Information
NCT Number NCT01633489
Other Study ID Numbers ALX-LALD-501
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Current Responsible Party Alexion
Original Responsible Party Same as current
Current Study Sponsor Alexion
Original Study Sponsor Same as current
Collaborators Not Provided
Study Director: Alexion Pharmaceuticals Sponsor GmbH
PRS Account Alexion
Verification Date July 2022