Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
300 participants
OBSERVATIONAL
2013-05-30
2029-08-30
Brief Summary
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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
Clinical Trial Site
Stanford, California, United States
Clinical Trial Site
Miramar, Florida, United States
Clinical Trial Site
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
Clinical Trial Site
Philadelphia, Pennsylvania, United States
Clinical Trial Site
Philadelphia, Pennsylvania, United States
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Philadelphia, Pennsylvania, United States
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Houston, Texas, United States
Clinical Trial Site
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
Clinical Trial Site
Campinas, São Paulo, Brazil
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São Paulo, , Brazil
Clinical Trial Site
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
Clinical Trial Site
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
Clinical Trial Site
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
Clinical Trial Site
Amsterdam, North Holland, Netherlands
Clinical Trial Site
Amsterdam, North Holland, Netherlands
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Guimarães, Braga District, Portugal
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Lisbon, , Portugal
Clinical Trial Site
Petersburg, Leningradskaya Oblast', Russia
Clinical Trial Site
Moscow, Moscow Oblast, Russia
Clinical Trial Site
Moscow, Moscow Oblast, Russia
Clinical Trial Site
Moscow, Moscow Oblast, Russia
Clinical Trial Site
Moscow, Moscow Oblast, Russia
Clinical Trial Site
Nizhny Novgorod, Nizhny Novgorod Oblast, Russia
Clinical Trial Site
Riyadh, , Saudi Arabia
Clinical Trial Site
Riyadh, , Saudi Arabia
Clinical Trial Site
Ljubljana, , Slovenia
Clinical Trial Site
Santiago de Compostela, A Coruña, Spain
Clinical Trial Site
Barakaldo, Biscay, Spain
Clinical Trial Site
Logroño, La Rioja, Spain
Clinical Trial Site
Burela de Cabo, Lugo, Spain
Clinical Trial Site
Málaga, Málaga, Spain
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Oviedo, Principality of Asturias, Spain
Clinical Trial Site
Reus, Tarragona, Spain
Clinical Trial Site
A Coruña, , Spain
Clinical Trial Site
Albacete, , Spain
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Alicante, , Spain
Clinical Trial Site
Barcelona, , Spain
Clinical Trial Site
Barcelona, , Spain
Clinical Trial Site
Las Palmas, , Spain
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Madrid, , Spain
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Madrid, , Spain
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Murcia, , Spain
Clinical Trial Site
Valladolid, , Spain
Clinical Trial Site
Zaragoza, , Spain
Clinical Trial Site
Cambridge, Cambridgeshire, United Kingdom
Clinical Trial Site
London, Greater London, United Kingdom
Clinical Trial Site
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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Alexion Pharmaceuticals, Inc. (Sponsor)
Role: CONTACT
Phone: 1-855-752-2356
Email: [email protected]
Facility Contacts
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Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
Chris Mitrevski
Role: primary
Francois Feillet
Role: primary
Michelle Santos Rondon
Role: primary
Marcelo Yamamoto
Role: primary
Rodrigo Rocco
Role: primary
Mila Baycheva
Role: primary
Katherine Schellevis
Role: primary
Linda Hastie
Role: primary
Lindsey McLeish
Role: primary
Davy Eng
Role: primary
Ivo Baric
Role: primary
Miguel Angel Barba
Role: primary
Jana Kňourková
Role: primary
Lioara Vanstraelen
Role: primary
Corinne Borderon
Role: primary
Francois Feillet
Role: primary
Patricio Aguiar
Role: primary
Patricio Aguiar
Role: primary
Miguel Angel Barba
Role: primary
Angelique Hubert
Role: primary
Patricio Aguiar
Role: primary
Isabelle Simoneau
Role: primary
Caroline Chevalier
Role: primary
Miguel Angel Barba
Role: primary
Miguel Angel Barba
Role: primary
Friederike Spengler
Role: primary
Adriana Gutierrez
Role: primary
Elisabeth Steinhagen-Thiessen
Role: primary
Elissavet Georgiadou
Role: primary
Charalampos Milionis
Role: primary
Maria Fotoulaki
Role: primary
Ann Loughnane
Role: primary
Yael Becker Ilani
Role: primary
Liat Pritzker
Role: primary
Tehila Ben-Moshe
Role: primary
Irina Rabkin
Role: primary
Albina Tummolo
Role: primary
Valentina Pecorella
Role: primary
Enrica Epifani
Role: primary
Sharon Giuliana
Role: primary
Marina Ferrario
Role: primary
Domenico Azzolino
Role: primary
Giulia Massini
Role: primary
Giuseppe Indolfi
Role: primary
Chiara Cazzorla
Role: primary
Jorge c
Role: primary
Jaime Lopez
Role: primary
Alejandra Consuelo-Sanchez
Role: primary
Nanet Sons
Role: primary
Patricio Aguiar
Role: primary
Olga Azevedo
Role: primary
Patricio Aguiar
Role: primary
Nikolay Vlasov
Role: primary
Francois Feillet
Role: primary
Natalia Pechatnikova
Role: primary
Maria Zharkova
Role: primary
Alexandr Potapov
Role: primary
Alla Lavrova
Role: primary
Hadeel Binomar
Role: primary
Hala Al Anizi
Role: primary
Damjana Nikovski
Role: primary
Role: primary
Role: primary
Role: primary
Role: primary
Liz Morris
Role: primary
Ana Amado Fondo
Role: primary
Miguel Angel Barba
Role: primary
Michaela Smyth
Role: primary
Rachel Smith
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