Lysosomal Acid Lipase (LAL) Deficiency Registry

Last updated: May 23, 2025
Sponsor: Alexion Pharmaceuticals, Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

Cholesterol Ester Storage Disease (Cesd)

Wolman Disease

Treatment

N/A

Clinical Study ID

NCT01633489
ALX-LALD-501
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

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.

Study Design

Total Participants: 300
Study Start date:
May 30, 2013
Estimated Completion Date:
August 30, 2029

Study 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.

Connect with a study center

  • Clinical Trial Site

    New Lambton Heights, New South Wales 2305
    Australia

    Active - Recruiting

  • New Lambton Heights,
    Australia

    Active - Recruiting

  • Clinical Trial Site

    Ghent, East Flanders 9000
    Belgium

    Active - Recruiting

  • Ghent,
    Belgium

    Active - Recruiting

  • empty

    Woluwe-Saint-Lambert,
    Belgium

    Site Not Available

  • Clinical Trial Site

    Campinas, São Paulo 13083-878
    Brazil

    Active - Recruiting

  • Campinas,
    Brazil

    Active - Recruiting

  • empty

    Ribeirão Preto,
    Brazil

    Site Not Available

  • Clinical Trial Site

    São Paulo, 04020-041
    Brazil

    Active - Recruiting

  • São Paulo,
    Brazil

    Active - Recruiting

  • Clinical Trial Site

    Sofia, Sofia City 1612
    Bulgaria

    Active - Recruiting

  • Clinical Trial Site

    Edmonton, Alberta T6G 2H7
    Canada

    Active - Recruiting

  • Clinical Trial Site

    Halifax, Nova Scotia B3H 1V8
    Canada

    Active - Recruiting

  • Clinical Trial Site

    London, Ontario NGA 5W9
    Canada

    Active - Recruiting

  • London, Ontario
    Canada

    Active - Recruiting

  • Edmonton,
    Canada

    Active - Recruiting

  • Halifax,
    Canada

    Active - Recruiting

  • Clinical Trial Site

    Quebec, G1R 2J6
    Canada

    Active - Recruiting

  • Clinical Trial Site

    Zagreb, 10000
    Croatia

    Active - Recruiting

  • Zagreb,
    Croatia

    Active - Recruiting

  • Clinical Trial Site

    Prague, Central Bohemia 128 00
    Czechia

    Active - Recruiting

  • Clinical Trial Site

    Olomouc, 779 00
    Czechia

    Active - Recruiting

  • Olomouc,
    Czechia

    Active - Recruiting

  • Prague,
    Czechia

    Active - Recruiting

  • empty

    Copenhagen,
    Denmark

    Site Not Available

  • Clinical Trial Site

    Bron, Auvergne-Rhône-Alpes 69500
    France

    Active - Recruiting

  • Clinical Trial Site

    Clermont-Ferrand, Auvergne-Rhône-Alpes 63100
    France

    Active - Recruiting

  • Clinical Trial Site

    Grenoble, Auvergne-Rhône-Alpes 38043
    France

    Active - Recruiting

  • Clinical Trial Site

    Caen, Normandy 14033
    France

    Active - Recruiting

  • Clinical Trial Site

    La Rochelle, Nouvelle-Aquitaine 17000
    France

    Active - Recruiting

  • Clinical Trial Site

    Niort, Nouvelle-Aquitaine 79021
    France

    Active - Recruiting

  • Clinical Trial Site

    Nancy, Vandœuvre-lès-Nancy 54500
    France

    Active - Recruiting

  • Clinical Trial Site

    Paris, Île-de-France 75743
    France

    Active - Recruiting

  • Bron,
    France

    Active - Recruiting

  • Clermont-Ferrand,
    France

    Active - Recruiting

  • Clinical Trial Site

    Dijon, 21000
    France

    Active - Recruiting

  • empty

    La Tronche,
    France

    Site Not Available

  • empty

    Lyon,
    France

    Site Not Available

  • Nancy,
    France

    Active - Recruiting

  • Clinical Trial Site

    Nantes, 44093
    France

    Active - Recruiting

  • Nantes,
    France

    Active - Recruiting

  • empty

    Nice,
    France

    Site Not Available

  • Paris,
    France

    Active - Recruiting

  • Clinical Trial Site

    Munich, Bavaria 81377
    Germany

    Active - Recruiting

  • Clinical Trial Site

    Essen, North Rhine-Westphalia 45122
    Germany

    Active - Recruiting

  • Clinical Trial Site

    Mainz, Rhineland-Palatinate 55131
    Germany

    Active - Recruiting

  • Clinical Trial Site

    Berlin, 13353
    Germany

    Active - Recruiting

  • Berlin,
    Germany

    Active - Recruiting

  • Essen,
    Germany

    Active - Recruiting

  • empty

    Hochheim,
    Germany

    Site Not Available

  • empty

    Mainz, 55131
    Germany

    Site Not Available

  • Munich,
    Germany

    Active - Recruiting

  • Clinical Trial Site

    Athens, Attica 115 27
    Greece

    Active - Recruiting

  • Clinical Trial Site

    Ioannina, Epirus 455 00
    Greece

    Active - Recruiting

  • Clinical Trial Site

    Thessaloniki, Macedonia 564 03
    Greece

    Active - Recruiting

  • Athens,
    Greece

    Active - Recruiting

  • Clinical Trial Site

    Dublin, Leinster D01 XD99
    Ireland

    Active - Recruiting

  • Dublin,
    Ireland

    Active - Recruiting

  • Clinical Trial Site

    Petah Tikva, Central 49202
    Israel

    Active - Recruiting

  • Clinical Trial Site

    Haifa, 3436212
    Israel

    Active - Recruiting

  • Clinical Trial Site

    Jerusalem, 9103102
    Israel

    Active - Recruiting

  • Jerusalem,
    Israel

    Active - Recruiting

  • Petah Tikva,
    Israel

    Active - Recruiting

  • Clinical Trial Site

    Bari, Apulia 70126
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Napoli, Campania 80131
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Udine, Friuli-Venezia Giulia 33100
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Genova, Liguria 16147
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Bergamo, Lombardy 24127
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Milano, Lombardy 20122
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Turin, Piedmont 10126
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Florence, Tuscany 50139
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Padova, Veneto 35128
    Italy

    Active - Recruiting

  • empty

    Genoa,
    Italy

    Site Not Available

  • Genova,
    Italy

    Active - Recruiting

  • Milano,
    Italy

    Active - Recruiting

  • empty

    Torino, 10126
    Italy

    Site Not Available

  • Turin,
    Italy

    Active - Recruiting

  • Clinical Trial Site

    Zapopan, Jalisco 45116
    Mexico

    Active - Recruiting

  • Clinical Trial Site

    Aguascalientes, 20230
    Mexico

    Active - Recruiting

  • Aguascalientes,
    Mexico

    Active - Recruiting

  • Clinical Trial Site

    Mexico City, 06720
    Mexico

    Active - Recruiting

  • Mexico City,
    Mexico

    Active - Recruiting

  • Zapopan,
    Mexico

    Active - Recruiting

  • Clinical Trial Site

    Amsterdam, North Holland 1105
    Netherlands

    Active - Recruiting

  • Amsterdam,
    Netherlands

    Active - Recruiting

  • empty

    Warsaw,
    Poland

    Site Not Available

  • Clinical Trial Site

    Guimarães, Braga 4835
    Portugal

    Active - Recruiting

  • Guimarães,
    Portugal

    Active - Recruiting

  • Clinical Trial Site

    Lisbon, 1649
    Portugal

    Active - Recruiting

  • Lisbon,
    Portugal

    Active - Recruiting

  • Clinical Trial Site

    Petersburg, Leningrad Oblast 194100
    Russian Federation

    Active - Recruiting

  • Clinical Trial Site

    Moscow, Moscow Oblast 119192
    Russian Federation

    Active - Recruiting

  • Clinical Trial Site

    Nizhny Novgorod, Nizhny Novgorod Oblast 603950
    Russian Federation

    Active - Recruiting

  • empty

    Jeddah,
    Saudi Arabia

    Site Not Available

  • Clinical Trial Site

    Riyadh, 11426
    Saudi Arabia

    Active - Recruiting

  • Riyadh,
    Saudi Arabia

    Active - Recruiting

  • Clinical Trial Site

    Ljubljana, 1111
    Slovenia

    Active - Recruiting

  • Ljubljana,
    Slovenia

    Active - Recruiting

  • Clinical Trial Site

    Santiago de Compostela, A Coruña 15706
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Oviedo, Asturias 33011
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Barakaldo, Biscay 48903
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Logroño, La Rioja 26006
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Burela, Lugo 27880
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Malaga, Málaga 29010
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Reus, Tarragona 43204
    Spain

    Active - Recruiting

  • Clinical Trial Site

    A Coruña, 15006
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Albacete, 02006
    Spain

    Active - Recruiting

  • Albacete,
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Alicante, 03203
    Spain

    Active - Recruiting

  • Hospital Regional Universitario de Málaga

    Andalusia,
    Spain

    Site Not Available

  • Hospital Universitario Miguel Servet

    Aragon,
    Spain

    Site Not Available

  • Hospital Universitario Central de Asturias

    Asturias,
    Spain

    Site Not Available

  • Clinical Trial Site

    Barcelona, 08036
    Spain

    Active - Recruiting

  • Barcelona,
    Spain

    Active - Recruiting

  • Hospital Universitario de Cruces

    Basque Country,
    Spain

    Site Not Available

  • Hospital Universitario de Gran Canaria Dr. Negrín

    Canary Islands,
    Spain

    Site Not Available

  • Hospital Universitario Rio Hortega

    Castile And León,
    Spain

    Site Not Available

  • Complejo Hospitalario Universitario de Albacete

    Castile-La Mancha,
    Spain

    Site Not Available

  • Hospital Clinic i Provincial

    Catalonia,
    Spain

    Active - Recruiting

  • Hospital Universitario San Joan de Reus

    Catalonia,
    Spain

    Active - Recruiting

  • Hospital Universitario Valle Hebron

    Catalonia,
    Spain

    Site Not Available

  • Complejo Hospitalario Universitario de A Coruña - Hospital Teresa Herrera

    Galicia,
    Spain

    Site Not Available

  • Hospital Clínico Universitario Santiago de Compostela

    Galicia,
    Spain

    Active - Recruiting

  • Hospital Da Costa Burela

    Galicia,
    Spain

    Active - Recruiting

  • Hospital de San Pedro

    La Rioja,
    Spain

    Site Not Available

  • Clinical Trial Site

    Las Palmas, 35019
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Madrid, 28046
    Spain

    Active - Recruiting

  • Madrid,
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Murcia, 30120
    Spain

    Active - Recruiting

  • Hospital Clínico Universitario Virgen de la Arrixaca

    Murcia,
    Spain

    Active - Recruiting

  • Oviedo,
    Spain

    Active - Recruiting

  • Hospital Universitario de Elche

    Valencia,
    Spain

    Site Not Available

  • Clinical Trial Site

    Valladolid, 47012
    Spain

    Active - Recruiting

  • Valladolid,
    Spain

    Active - Recruiting

  • Clinical Trial Site

    Zaragoza, 50009
    Spain

    Active - Recruiting

  • Zaragoza,
    Spain

    Active - Recruiting

  • empty

    Zürich,
    Switzerland

    Site Not Available

  • Clinical Trial Site

    Cambridge, Cambridgeshire CB2 0QQ
    United Kingdom

    Active - Recruiting

  • Clinical Trial Site

    London, Greater London WC1N 3BG
    United Kingdom

    Active - Recruiting

  • Clinical Trial Site

    Manchester, Greater Manchester M13 9WL
    United Kingdom

    Active - Recruiting

  • Clinical Trial Site

    Salford, Greater Manchester M6 8HD
    United Kingdom

    Active - Recruiting

  • Clinical Trial Site

    Birmingham, West Midlands B4 6NH
    United Kingdom

    Active - Recruiting

  • Birmingham,
    United Kingdom

    Active - Recruiting

  • Cambridge,
    United Kingdom

    Active - Recruiting

  • empty

    Greater Manchester,
    United Kingdom

    Site Not Available

  • London,
    United Kingdom

    Active - Recruiting

  • Manchester,
    United Kingdom

    Active - Recruiting

  • Salford,
    United Kingdom

    Active - Recruiting

  • Clinical Trial Site

    Phoenix, Arizona 85016
    United States

    Active - Recruiting

  • Phoenix, Arizona
    United States

    Active - Recruiting

  • empty

    Los Angeles, California
    United States

    Site Not Available

  • Clinical Trial Site

    Stanford, California 94305
    United States

    Active - Recruiting

  • Stanford, California 94305
    United States

    Active - Recruiting

  • Clinical Trial Site

    Miramar, Florida 33025
    United States

    Active - Recruiting

  • Clinical Trial Site

    Orlando, Florida 32806
    United States

    Active - Recruiting

  • Orlando, Florida
    United States

    Active - Recruiting

  • Clinical Trial Site

    Atlanta, Georgia 30322
    United States

    Active - Recruiting

  • Atlanta, Georgia
    United States

    Active - Recruiting

  • empty

    Decatur, Georgia 30033
    United States

    Site Not Available

  • Clinical Trial Site

    Chicago, Illinois 60611
    United States

    Active - Recruiting

  • Chicago, Illinois 60611
    United States

    Active - Recruiting

  • Clinical Trial Site

    Boston, Massachusetts 02115
    United States

    Active - Recruiting

  • Boston, Massachusetts 02115
    United States

    Active - Recruiting

  • empty

    Lexington, Massachusetts 02421
    United States

    Site Not Available

  • Clinical Trial Site

    Detroit, Michigan 48236
    United States

    Active - Recruiting

  • Detroit, Michigan 48236
    United States

    Active - Recruiting

  • Clinical Trial Site

    Minneapolis, Minnesota 55404
    United States

    Active - Recruiting

  • Minneapolis, Minnesota 55111
    United States

    Active - Recruiting

  • Clinical Trial Site

    Jackson, Mississippi 39216
    United States

    Active - Recruiting

  • empty

    Hackensack, New Jersey
    United States

    Site Not Available

  • Clinical Trial Site

    Hackensack, NJ, 7601, New Jersey 07601
    United States

    Active - Recruiting

  • Clinical Trial Site

    Bronx, New York 10467
    United States

    Active - Recruiting

  • Bronx, New York 10467
    United States

    Terminated

  • Clinical Trial Site

    New York, New York 10016
    United States

    Active - Recruiting

  • New York, New York 11030
    United States

    Active - Recruiting

  • empty

    The Bronx, New York 10467
    United States

    Site Not Available

  • Clinical Trial Site

    Philadelphia, Pennsylvania 19104
    United States

    Active - Recruiting

  • Philadelphia, Pennsylvania
    United States

    Active - Recruiting

  • empty

    Providence, Rhode Island 02903
    United States

    Site Not Available

  • empty

    Dallas, Texas
    United States

    Site Not Available

  • Clinical Trial Site

    Houston, Texas 77030
    United States

    Active - Recruiting

  • Houston, Texas 77030
    United States

    Active - Recruiting

  • Clinical Trial Site

    Snyder, Texas 79549
    United States

    Active - Recruiting

  • empty

    Fairfax, Virginia 22030
    United States

    Site Not Available

  • Clinical Trial Site

    Tacoma, Washington 98405
    United States

    Active - Recruiting

  • Tacoma, Washington
    United States

    Active - Recruiting

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