Lysosomal Acid Lipase (LAL) Deficiency Registry

NCT01633489 | Recruiting

• 1 other identifier: ALX-LALD-501
• Study Type: observational
• Target: 300
• Locations: 22 countries
• Sites: 104

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• Understanding of the variability, progression, identification and natural history of LAL Deficiency.

  Ongoing

Study Arms (1)

LAL Deficiency patients

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Alexion Pharmaceuticals, Inc.: lead

Study Sites (104)

Clinical Trial Site

Phoenix, Arizona, 85016, United States

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Stanford, California, 94305, United States

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Miramar, Florida, 33025, United States

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Orlando, Florida, 32806, United States

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Atlanta, Georgia, 30322, United States

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Chicago, Illinois, 60611, United States

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Boston, Massachusetts, 02115, United States

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Detroit, Michigan, 48236, United States

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Minneapolis, Minnesota, 55404, United States

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Jackson, Mississippi, 39216, United States

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Hackensack, NJ, 7601, New Jersey, 07601, United States

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New York, New York, 10016, United States

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The Bronx, New York, 10467, United States

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Philadelphia, Pennsylvania, 19104-6061, United States

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Philadelphia, Pennsylvania, 19104, United States

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Philadelphia, Pennsylvania, 19107, United States

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Houston, Texas, 77030, United States

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Houston, Texas, 77030, United States

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Snyder, Texas, 79549, United States

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Tacoma, Washington, 98405, United States

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New Lambton Heights, New South Wales, 2305, Australia

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Ghent, East Flanders, 9000, Belgium

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Campinas, São Paulo, 13083-878, Brazil

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São Paulo, 04020-041, Brazil

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São Paulo, 04543-011, Brazil

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Sofia, Sofia-Grad, 1612, Bulgaria

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Edmonton, Alberta, T6G 2H7, Canada

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Halifax, Nova Scotia, B3H 1V8, Canada

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London, Ontario, NGA 5W9, Canada

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Québec, G1R 2J6, Canada

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Zagreb, 10000, Croatia

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Prague, Central Bohemia, 128 00, Czechia

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Olomouc, 779 00, Czechia

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Bron, Auvergne-Rhône-Alpes, 69500, France

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Clermont-Ferrand, Auvergne-Rhône-Alpes, 63003, France

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Clermont-Ferrand, Auvergne-Rhône-Alpes, 63100, France

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Grenoble, Auvergne-Rhône-Alpes, 38043, France

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Caen, Normandy, 14033, France

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La Rochelle, Nouvelle-Aquitaine, 17000, France

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Niort, Nouvelle-Aquitaine, 79021, France

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Nancy, Vandœuvre-lès-Nancy, 54500, France

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Dijon, 21000, France

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Nantes, 44093, France

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Paris, Île-de-France Region, 75743, France

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Munich, Bavaria, 81377, Germany

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Essen, North Rhine-Westphalia, 45122, Germany

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Mainz, Rhineland-Palatinate, 55131, Germany

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Berlin, 13353, Germany

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Athens, Attica, 115 27, Greece

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Ioannina, Epirus, 455 00, Greece

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Thessaloniki, Macedonia, 564 03, Greece

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Dublin, Leinster, D01 XD99, Ireland

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Petah Tikva, Central District, 49202, Israel

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Haifa, 3436212, Israel

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Jerusalem, 9103102, Israel

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Jerusalem, 91120, Israel

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Bari, Apulia, 70126, Italy

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Naples, Campania, 80131, Italy

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Udine, Friuli Venezia Giulia, 33100, Italy

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Genoa, Liguria, 16147, Italy

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Bergamo, Lombardy, 24127, Italy

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Milan, Lombardy, 20122, Italy

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Turin, Piedmont, 10126, Italy

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Florence, Tuscany, 50139, Italy

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Padua, Veneto, 35128, Italy

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Zapopan, Jalisco, 45116, Mexico

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Aguascalientes, 20230, Mexico

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Mexico City, 06720, Mexico

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Amsterdam, North Holland, 1105, Netherlands

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Amsterdam, North Holland, 1105, Netherlands

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Guimarães, Braga District, 4835, Portugal

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Lisbon, 1649, Portugal

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Petersburg, Leningradskaya Oblast', 194100, Russia

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Moscow, Moscow Oblast, 115446, Russia

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Moscow, Moscow Oblast, 119049, Russia

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Moscow, Moscow Oblast, 119192, Russia

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Moscow, Moscow Oblast, 119296, Russia

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Nizhny Novgorod, Nizhny Novgorod Oblast, 603950, Russia

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Riyadh, 11211, Saudi Arabia

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Riyadh, 11426, Saudi Arabia

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Ljubljana, 1111, Slovenia

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Santiago de Compostela, A Coruña, 15706, Spain

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Barakaldo, Biscay, 48903, Spain

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Logroño, La Rioja, 26006, Spain

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Burela de Cabo, Lugo, 27880, Spain

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Málaga, Málaga, 29010, Spain

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Oviedo, Principality of Asturias, 33011, Spain

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Reus, Tarragona, 43204, Spain

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A Coruña, 15006, Spain

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Albacete, 02006, Spain

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Alicante, 03203, Spain

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Barcelona, 08036, Spain

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Barcelona, 08305, Spain

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Las Palmas, 35019, Spain

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Madrid, 28046, Spain

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Madrid, 28914, Spain

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Murcia, 30120, Spain

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Valladolid, 47012, Spain

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Zaragoza, 50009, Spain

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Cambridge, Cambridgeshire, CB2 0QQ, United Kingdom

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London, Greater London, WC1N 3BG, United Kingdom

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Manchester, Greater Manchester, M13 9WL, United Kingdom

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Salford, Greater Manchester, M6 8HD, United Kingdom

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Birmingham, West Midlands, B4 6NH, United Kingdom

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Related Publications (3)

• 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.

  PMID: 40781810 DERIVED

• 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.

  PMID: 37222260 DERIVED

• 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.

  PMID: 31249784 DERIVED

Related Links

• LAL Deficiency Registry
• Alexion Website

MeSH Terms

Conditions

Wolman Disease; Cholesterol Ester Storage Disease

Condition Hierarchy (Ancestors)

Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Infant, Newborn, Diseases; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Alexion Pharmaceuticals

  Sponsor GmbH

  STUDY DIRECTOR

Central Study Contacts

Alexion Pharmaceuticals, Inc. (Sponsor)

CONTACT

1-855-752-2356; clinicaltrials@alexion.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 29, 2012
• First Posted: July 4, 2012
• Study Start: May 30, 2013
• Primary Completion (Estimated): August 30, 2029
• Study Completion (Estimated): August 30, 2029
• Last Updated: March 6, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

CR (1); FR (11); NL (2); SA (2); GR (3); US (20); AU (1); BR (3); IL (4); IE (1); IT (9); CZ (2); DE (4); ME (3); RU (6); ES (18); BU (1); CA (4); PT (2); SL (1); GB (5); BE (1)