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

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ClinicalTrials.gov Identifier: NCT01633489
Recruitment Status : Recruiting
First Posted : July 4, 2012
Last Update Posted : October 20, 2017
Sponsor:
Information provided by (Responsible Party):

Study Description
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.

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

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 Design

Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
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
Study Start Date : December 2012
Estimated Primary Completion Date : June 2029
Estimated Study Completion Date : June 2029


Groups and Cohorts

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


Outcome Measures

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

Eligibility Criteria

Information from the National Library of Medicine

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

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01633489


Contacts
Contact: Alexion Pharmaceuticals, Inc. laldregistry@alexion.com
Contact: Genevieve Doster GDoster@clintec.com

  Show 28 Study Locations
Sponsors and Collaborators
Alexion Pharmaceuticals
Investigators
Study Director: Alexion Pharmaceuticals Sponsor GmbH
More Information

Additional Information:
Responsible Party: Alexion Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01633489     History of Changes
Other Study ID Numbers: ALX-LALD-501
First Posted: July 4, 2012    Key Record Dates
Last Update Posted: October 20, 2017
Last Verified: October 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Wolman Disease
Cholesterol Ester Storage Disease
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Metabolic Diseases