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

March 4, 2026 updated by: Alexion Pharmaceuticals, Inc.

An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency

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.

Study Overview

Status

Recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Australia
    • New South Wales
      • New Lambton Heights, New South Wales, Australia, 2305
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Lay Theng Gan
  • Belgium
    • East Flanders
      • Ghent, East Flanders, Belgium, 9000
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Ruth De Bruyne
  • Brazil
      • São Paulo, Brazil, 04020-041
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Ana Maria Martins
      • São Paulo, Brazil, 04543-011
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Rodrigo Rocco
    • São Paulo
      • Campinas, São Paulo, Brazil, 13083-878
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Marlone Da Silva
  • Bulgaria
    • Sofia-Grad
      • Sofia, Sofia-Grad, Bulgaria, 1612
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Mila Baycheva
        • Contact:
  • Canada
      • Québec, Canada, G1R 2J6
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Regen Drouin
    • Alberta
      • Edmonton, Alberta, Canada, T6G 2H7
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Alicia Chan
    • Nova Scotia
      • Halifax, Nova Scotia, Canada, B3H 1V8
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Julie Zhu
        • Contact:
    • Ontario
      • London, Ontario, Canada, NGA 5W9
        • Recruiting
        • Clinical Trial Site
        • Contact:
          • Lindsey McLeish
          • Phone Number: +1 519 685 8500
        • Principal Investigator:
          • Chitra Prasad
  • Croatia
      • Zagreb, Croatia, 10000
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Ivo Baric
  • Czechia
      • Olomouc, Czechia, 779 00
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Vratislav Smolka
    • Central Bohemia
      • Prague, Central Bohemia, Czechia, 128 00
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Stella Reichmannova
  • France
      • Dijon, France, 21000
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Bruno VERGES
        • Contact:
      • Nantes, France, 44093
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Jérôme GOURNAY
    • Auvergne-Rhône-Alpes
      • Bron, Auvergne-Rhône-Alpes, France, 69500
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Noel Peretti
      • Clermont-Ferrand, Auvergne-Rhône-Alpes, France, 63003
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Corinne Borderon
      • Clermont-Ferrand, Auvergne-Rhône-Alpes, France, 63100
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Armand Abergel
        • Contact:
      • Grenoble, Auvergne-Rhône-Alpes, France, 38043
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Anne Pagnier
    • Normandy
      • Caen, Normandy, France, 14033
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Marietta Musikas
    • Nouvelle-Aquitaine
      • La Rochelle, Nouvelle-Aquitaine, France, 17000
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Eloi Blanchet
      • Niort, Nouvelle-Aquitaine, France, 79021
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Catherine Borderie
    • Vandœuvre-lès-Nancy
      • Nancy, Vandœuvre-lès-Nancy, France, 54500
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Francois Feillet
    • Île-de-France Region
      • Paris, Île-de-France Region, France, 75743
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Jean-Baptiste Arnoux
        • Contact:
  • Germany
      • Berlin, Germany, 13353
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Elisabeth Steinhagen-Thiessen
    • Bavaria
      • Munich, Bavaria, Germany, 81377
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Klaus Parhofer
    • North Rhine-Westphalia
      • Essen, North Rhine-Westphalia, Germany, 45122
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Jassin Rashidi Alavijeh
    • Rhineland-Palatinate
      • Mainz, Rhineland-Palatinate, Germany, 55131
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Karl-Eugen Mengel
  • Greece
    • Attica
      • Athens, Attica, Greece, 115 27
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Evangelia Lykopoulu
    • Epirus
      • Ioannina, Epirus, Greece, 455 00
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Charalampos Milionis
    • Macedonia
      • Thessaloniki, Macedonia, Greece, 564 03
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Maria Fotoulaki
  • Ireland
    • Leinster
      • Dublin, Leinster, Ireland, D01 XD99
  • Israel
      • Haifa, Israel, 3436212
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Reut Batcir
      • Jerusalem, Israel, 9103102
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Eyal Shteyer
      • Jerusalem, Israel, 91120
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Mordechai Slae
        • Contact:
    • Central District
      • Petah Tikva, Central District, Israel, 49202
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Yuval Landau
  • Italy
    • Apulia
      • Bari, Apulia, Italy, 70126
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Albina Tummolo
    • Campania
      • Napoli, Campania, Italy, 80131
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Giancarlo Parenti
    • Friuli Venezia Giulia
      • Udine, Friuli Venezia Giulia, Italy, 33100
    • Liguria
      • Genoa, Liguria, Italy, 16147
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Annalisa Madeo
    • Lombardy
      • Bergamo, Lombardy, Italy, 24127
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Lorenzo D'Antiga
        • Contact:
      • Milan, Lombardy, Italy, 20122
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Tiziano Angelo Lucchi
    • Piedmont
      • Turin, Piedmont, Italy, 10126
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Luisa de Sanctis
    • Tuscany
      • Florence, Tuscany, Italy, 50139
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Giuseppe Indolfi
    • Veneto
      • Padua, Veneto, Italy, 35128
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Alberto Burlina
        • Contact:
  • Mexico
      • Aguascalientes, Mexico, 20230
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Jamie Lopez
      • Mexico City, Mexico, 06720
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Alejandra Consuelo-Sanchez
    • Jalisco
      • Zapopan, Jalisco, Mexico, 45116
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Jorge Chavez
  • Netherlands
    • North Holland
      • Amsterdam, North Holland, Netherlands, 1105
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Marion Brands
  • Portugal
      • Lisbon, Portugal, 1649
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Patricio Aguiar
        • Contact:
    • Braga District
      • Guimarães, Braga District, Portugal, 4835
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Olga Azevedo
        • Contact:
  • Russia
    • Leningradskaya Oblast'
      • Petersburg, Leningradskaya Oblast', Russia, 194100
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Nikolay Vlasov
    • Moscow Oblast
      • Moscow, Moscow Oblast, Russia, 115446
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Tatiana Strokova
      • Moscow, Moscow Oblast, Russia, 119049
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Natalia Pechatnikova
      • Moscow, Moscow Oblast, Russia, 119192
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Maria Zharkova
      • Moscow, Moscow Oblast, Russia, 119296
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Alexandr Potapov
    • Nizhny Novgorod Oblast
      • Nizhny Novgorod, Nizhny Novgorod Oblast, Russia, 603950
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Alla Lavrova
  • Saudi Arabia
      • Riyadh, Saudi Arabia, 11211
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Moeenaldeen Alsayed
      • Riyadh, Saudi Arabia, 11426
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Majid Alfadhel
  • Slovenia
      • Ljubljana, Slovenia, 1111
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Urh Groselj
        • Contact:
  • Spain
      • A Coruña, Spain, 15006
        • Recruiting
        • Clinical Trial Site
      • Albacete, Spain, 02006
      • Alicante, Spain, 03203
        • Recruiting
        • Clinical Trial Site
      • Barcelona, Spain, 08036
        • Recruiting
        • Clinical Trial Site
      • Barcelona, Spain, 08305
        • Recruiting
        • Clinical Trial Site
      • Las Palmas, Spain, 35019
        • Recruiting
        • Clinical Trial Site
      • Madrid, Spain, 28046
        • Recruiting
        • Clinical Trial Site
      • Madrid, Spain, 28914
        • Recruiting
        • Clinical Trial Site
      • Murcia, Spain, 30120
        • Recruiting
        • Clinical Trial Site
      • Valladolid, Spain, 47012
      • Zaragoza, Spain, 50009
    • A Coruña
      • Santiago de Compostela, A Coruña, Spain, 15706
        • Recruiting
        • Clinical Trial Site
    • Biscay
      • Barakaldo, Biscay, Spain, 48903
        • Recruiting
        • Clinical Trial Site
    • La Rioja
      • Logroño, La Rioja, Spain, 26006
        • Recruiting
        • Clinical Trial Site
    • Lugo
      • Burela de Cabo, Lugo, Spain, 27880
        • Recruiting
        • Clinical Trial Site
    • Málaga
      • Málaga, Málaga, Spain, 29010
        • Recruiting
        • Clinical Trial Site
    • Principality of Asturias
    • Tarragona
      • Reus, Tarragona, Spain, 43204
        • Recruiting
        • Clinical Trial Site
  • United Kingdom
    • Cambridgeshire
      • Cambridge, Cambridgeshire, United Kingdom, CB2 0QQ
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Patrick Deegan
        • Contact:
    • Greater London
      • London, Greater London, United Kingdom, WC1N 3BG
        • Recruiting
        • Clinical Trial Site
        • Contact:
        • Principal Investigator:
          • Elaine Murphy
    • Greater Manchester
      • Manchester, Greater Manchester, United Kingdom, M13 9WL
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Simon Jones
        • Contact:
      • Salford, Greater Manchester, United Kingdom, M6 8HD
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Reena Sharma
        • Contact:
    • West Midlands
      • Birmingham, West Midlands, United Kingdom, B4 6NH
        • Recruiting
        • Clinical Trial Site
        • Principal Investigator:
          • Suresh Vijay
        • Contact:
  • United States
    • Arizona
      • Phoenix, Arizona, United States, 85016
        • Recruiting
        • Clinical Trial Site
    • California
    • Florida
      • Miramar, Florida, United States, 33025
        • Recruiting
        • Clinical Trial Site
      • Orlando, Florida, United States, 32806
        • Recruiting
        • Clinical Trial Site
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Recruiting
        • Clinical Trial Site
    • Illinois
    • Massachusetts
    • Michigan
    • Minnesota
      • Minneapolis, Minnesota, United States, 55404
        • Recruiting
        • Clinical Trial Site
    • Mississippi
      • Jackson, Mississippi, United States, 39216
        • Recruiting
        • Clinical Trial Site
    • New Jersey
      • Hackensack, NJ, 7601, New Jersey, United States, 07601
        • Recruiting
        • Clinical Trial Site
    • New York
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19107
        • Recruiting
        • Clinical Trial Site
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Clinical Trial Site
      • Philadelphia, Pennsylvania, United States, 19104-6061
        • Recruiting
        • Clinical Trial Site
    • Texas
      • Houston, Texas, United States, 77030
      • Snyder, Texas, United States, 79549
        • Recruiting
        • Clinical Trial Site
    • Washington
      • Tacoma, Washington, United States, 98405
        • Recruiting
        • Clinical Trial Site

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All patients with a diagnosis of LAL Deficiency.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Understanding of the variability, progression, identification and natural history of LAL Deficiency.
Time Frame: Ongoing
Ongoing

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Alexion Pharmaceuticals, Inc.

Investigators

  • Study Director: Alexion Pharmaceuticals, Sponsor GmbH

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 30, 2013

Primary Completion (Estimated)

August 30, 2029

Study Completion (Estimated)

August 30, 2029

Study Registration Dates

First Submitted

June 29, 2012

First Submitted That Met QC Criteria

July 3, 2012

First Posted (Estimated)

July 4, 2012

Study Record Updates

Last Update Posted (Actual)

March 6, 2026

Last Update Submitted That Met QC Criteria

March 4, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ALX-LALD-501

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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