Lysosomal Acid Lipase (LAL) Deficiency Registry

Last updated: April 8, 2025
Sponsor: Alexion Pharmaceuticals, Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

Wolman Disease

Cholesterol Ester Storage Disease (Cesd)

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

  • New Lambton Heights,
    Australia

    Active - Recruiting

  • Ghent,
    Belgium

    Active - Recruiting

  • empty

    Woluwe-Saint-Lambert,
    Belgium

    Site Not Available

  • Campinas,
    Brazil

    Active - Recruiting

  • Ribeirão Preto,
    Brazil

    Active - Recruiting

  • São Paulo,
    Brazil

    Active - Recruiting

  • London, Ontario
    Canada

    Active - Recruiting

  • Edmonton,
    Canada

    Active - Recruiting

  • Halifax,
    Canada

    Active - Recruiting

  • Zagreb,
    Croatia

    Active - Recruiting

  • Olomouc,
    Czechia

    Active - Recruiting

  • Prague,
    Czechia

    Active - Recruiting

  • Copenhagen,
    Denmark

    Active - Recruiting

  • Bron,
    France

    Active - Recruiting

  • Clermont-Ferrand,
    France

    Active - Recruiting

  • La Tronche,
    France

    Active - Recruiting

  • Lyon,
    France

    Active - Recruiting

  • Nancy,
    France

    Active - Recruiting

  • Nantes,
    France

    Active - Recruiting

  • Nice,
    France

    Active - Recruiting

  • Paris,
    France

    Active - Recruiting

  • Berlin,
    Germany

    Active - Recruiting

  • Essen,
    Germany

    Active - Recruiting

  • Hochheim,
    Germany

    Active - Recruiting

  • empty

    Mainz, 55131
    Germany

    Site Not Available

  • Munich,
    Germany

    Active - Recruiting

  • Athens,
    Greece

    Active - Recruiting

  • Dublin,
    Ireland

    Active - Recruiting

  • Jerusalem,
    Israel

    Active - Recruiting

  • Petah Tikva,
    Israel

    Active - Recruiting

  • Genoa,
    Italy

    Active - Recruiting

  • Genova,
    Italy

    Active - Recruiting

  • Milano,
    Italy

    Active - Recruiting

  • empty

    Torino, 10126
    Italy

    Site Not Available

  • Turin,
    Italy

    Active - Recruiting

  • Aguascalientes,
    Mexico

    Active - Recruiting

  • Mexico City,
    Mexico

    Active - Recruiting

  • Zapopan,
    Mexico

    Active - Recruiting

  • Amsterdam,
    Netherlands

    Active - Recruiting

  • Warsaw,
    Poland

    Active - Recruiting

  • Guimarães,
    Portugal

    Active - Recruiting

  • Lisbon,
    Portugal

    Active - Recruiting

  • Jeddah,
    Saudi Arabia

    Active - Recruiting

  • Riyadh,
    Saudi Arabia

    Active - Recruiting

  • Ljubljana,
    Slovenia

    Active - Recruiting

  • Albacete,
    Spain

    Active - Recruiting

  • Hospital Regional Universitario de Málaga

    Andalusia,
    Spain

    Active - Recruiting

  • Hospital Universitario Miguel Servet

    Aragon,
    Spain

    Active - Recruiting

  • Hospital Universitario Central de Asturias

    Asturias,
    Spain

    Active - Recruiting

  • Barcelona,
    Spain

    Active - Recruiting

  • Hospital Universitario de Cruces

    Basque Country,
    Spain

    Active - Recruiting

  • Hospital Universitario de Gran Canaria Dr. Negrín

    Canary Islands,
    Spain

    Active - Recruiting

  • Hospital Universitario Rio Hortega

    Castile And León,
    Spain

    Active - Recruiting

  • Complejo Hospitalario Universitario de Albacete

    Castile-La Mancha,
    Spain

    Active - Recruiting

  • Hospital Clinic i Provincial

    Catalonia,
    Spain

    Active - Recruiting

  • Hospital Universitario San Joan de Reus

    Catalonia,
    Spain

    Active - Recruiting

  • Hospital Universitario Valle Hebron

    Catalonia,
    Spain

    Active - Recruiting

  • Complejo Hospitalario Universitario de A Coruña - Hospital Teresa Herrera

    Galicia,
    Spain

    Active - Recruiting

  • 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

    Active - Recruiting

  • Madrid,
    Spain

    Active - Recruiting

  • Hospital Clínico Universitario Virgen de la Arrixaca

    Murcia,
    Spain

    Active - Recruiting

  • Oviedo,
    Spain

    Active - Recruiting

  • Hospital Universitario de Elche

    Valencia,
    Spain

    Active - Recruiting

  • Valladolid,
    Spain

    Active - Recruiting

  • Zaragoza,
    Spain

    Active - Recruiting

  • empty

    Zürich,
    Switzerland

    Site Not Available

  • 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

  • Phoenix, Arizona
    United States

    Active - Recruiting

  • Los Angeles, California
    United States

    Active - Recruiting

  • Stanford, California 94305
    United States

    Active - Recruiting

  • Orlando, Florida
    United States

    Active - Recruiting

  • Atlanta, Georgia
    United States

    Active - Recruiting

  • empty

    Decatur, Georgia 30033
    United States

    Site Not Available

  • Chicago, Illinois 60611
    United States

    Active - Recruiting

  • Boston, Massachusetts 02115
    United States

    Active - Recruiting

  • empty

    Lexington, Massachusetts 02421
    United States

    Site Not Available

  • Detroit, Michigan 48236
    United States

    Active - Recruiting

  • Minneapolis, Minnesota 55111
    United States

    Active - Recruiting

  • Hackensack, New Jersey
    United States

    Active - Recruiting

  • Bronx, New York 10467
    United States

    Terminated

  • New York, New York 11030
    United States

    Active - Recruiting

  • empty

    The Bronx, New York 10467
    United States

    Site Not Available

  • Philadelphia, Pennsylvania
    United States

    Active - Recruiting

  • empty

    Providence, Rhode Island 02903
    United States

    Site Not Available

  • Dallas, Texas
    United States

    Active - Recruiting

  • Houston, Texas 77030
    United States

    Active - Recruiting

  • Fairfax, Virginia 22030
    United States

    Active - Recruiting

  • Tacoma, Washington
    United States

    Active - Recruiting

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