Study Results
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Basic Information
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RECRUITING
300 participants
OBSERVATIONAL
2013-05-30
2029-08-30
Brief Summary
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An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
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Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
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Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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LAL Deficiency patients
Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
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.
ALL
No
Sponsors
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Alexion Pharmaceuticals, Inc.
INDUSTRY
Responsible Party
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Principal Investigators
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Alexion Pharmaceuticals
Role: STUDY_DIRECTOR
Sponsor GmbH
Locations
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Clinical Trial Site
Phoenix, Arizona, United States
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Stanford, California, United States
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Miramar, Florida, United States
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Orlando, Florida, United States
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Atlanta, Georgia, United States
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Chicago, Illinois, United States
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Boston, Massachusetts, United States
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Detroit, Michigan, United States
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Minneapolis, Minnesota, United States
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Jackson, Mississippi, United States
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Hackensack, NJ, 7601, New Jersey, United States
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New York, New York, United States
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The Bronx, New York, United States
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Philadelphia, Pennsylvania, United States
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Philadelphia, Pennsylvania, United States
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Philadelphia, Pennsylvania, United States
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Houston, Texas, United States
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Houston, Texas, United States
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Snyder, Texas, United States
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Tacoma, Washington, United States
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New Lambton Heights, New South Wales, Australia
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Ghent, East Flanders, Belgium
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Campinas, São Paulo, Brazil
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São Paulo, , Brazil
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São Paulo, , Brazil
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Sofia, Sofia-Grad, Bulgaria
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Edmonton, Alberta, Canada
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Halifax, Nova Scotia, Canada
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London, Ontario, Canada
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Québec, , Canada
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Zagreb, , Croatia
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Prague, Central Bohemia, Czechia
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Olomouc, , Czechia
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Bron, Auvergne-Rhône-Alpes, France
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Clermont-Ferrand, Auvergne-Rhône-Alpes, France
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Clermont-Ferrand, Auvergne-Rhône-Alpes, France
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Grenoble, Auvergne-Rhône-Alpes, France
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Caen, Normandy, France
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La Rochelle, Nouvelle-Aquitaine, France
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Niort, Nouvelle-Aquitaine, France
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Nancy, Vandœuvre-lès-Nancy, France
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Dijon, , France
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Nantes, , France
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Paris, Île-de-France Region, France
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Munich, Bavaria, Germany
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Essen, North Rhine-Westphalia, Germany
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Mainz, Rhineland-Palatinate, Germany
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Berlin, , Germany
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Athens, Attica, Greece
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Ioannina, Epirus, Greece
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Thessaloniki, Macedonia, Greece
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Dublin, Leinster, Ireland
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Petah Tikva, Central District, Israel
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Haifa, , Israel
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Jerusalem, , Israel
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Jerusalem, , Israel
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Bari, Apulia, Italy
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Napoli, Campania, Italy
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Udine, Friuli Venezia Giulia, Italy
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Genoa, Liguria, Italy
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Bergamo, Lombardy, Italy
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Milan, Lombardy, Italy
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Turin, Piedmont, Italy
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Florence, Tuscany, Italy
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Padua, Veneto, Italy
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Zapopan, Jalisco, Mexico
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Aguascalientes, , Mexico
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Mexico City, , Mexico
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Amsterdam, North Holland, Netherlands
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Amsterdam, North Holland, Netherlands
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Guimarães, Braga District, Portugal
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Lisbon, , Portugal
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Petersburg, Leningradskaya Oblast', Russia
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Moscow, Moscow Oblast, Russia
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Moscow, Moscow Oblast, Russia
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Moscow, Moscow Oblast, Russia
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Moscow, Moscow Oblast, Russia
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Nizhny Novgorod, Nizhny Novgorod Oblast, Russia
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Riyadh, , Saudi Arabia
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Riyadh, , Saudi Arabia
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Ljubljana, , Slovenia
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Santiago de Compostela, A Coruña, Spain
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Barakaldo, Biscay, Spain
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Logroño, La Rioja, Spain
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Burela de Cabo, Lugo, Spain
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Málaga, Málaga, Spain
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Oviedo, Principality of Asturias, Spain
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Reus, Tarragona, Spain
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A Coruña, , Spain
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Albacete, , Spain
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Alicante, , Spain
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Barcelona, , Spain
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Barcelona, , Spain
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Las Palmas, , Spain
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Madrid, , Spain
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Madrid, , Spain
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Murcia, , Spain
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Valladolid, , Spain
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Zaragoza, , Spain
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Cambridge, Cambridgeshire, United Kingdom
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London, Greater London, United Kingdom
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Manchester, Greater Manchester, United Kingdom
Clinical Trial Site
Salford, Greater Manchester, United Kingdom
Clinical Trial Site
Birmingham, West Midlands, United Kingdom
Countries
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Central Contacts
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Facility Contacts
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Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
Lindsey McLeish
Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
References
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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.
D'Antiga L, Evans J, Ros E, Abel F, Balwani M, Wilson DP, Balistreri W. Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry. Liver Int. 2025 Sep;45(9):e70279. doi: 10.1111/liv.70279.
Balwani M, Balistreri W, D'Antiga L, Evans J, Ros E, Abel F, Wilson DP. Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry. Liver Int. 2023 Jul;43(7):1537-1547. doi: 10.1111/liv.15620. Epub 2023 May 24.
Related Links
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LAL Deficiency Registry
Alexion Website
Other Identifiers
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ALX-LALD-501
Identifier Type: -
Identifier Source: org_study_id
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