Lysosomal Acid Lipase DeficiencyALX-LALD-501NCT01633489
Lysosomal Acid Lipase (LAL) Deficiency Registry
An observational study of Lysosomal Acid Lipase Deficiency and Cholesterol Ester Storage Disease, run by Alexion Pharmaceuticals, Inc. at 104 sites in 22 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease
- How many people
- 300 participants
- Where
- 104 sitesin 22 countries
- Study dates
- 30 May 2013to 30 Aug 2029
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Trial locations and contacts
104 sites in 22 countries. Contact the study team or a site near you to ask about taking part.
104 sites in 22 countries
United States20 sites, 20 recruiting
- Recruiting
Clinical Trial Site
Atlanta, Georgia, 30322
- Recruiting
Clinical Trial Site
Boston, Massachusetts, 02115
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Chicago, Illinois, 60611
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Detroit, Michigan, 48236
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Hackensack, NJ, 7601, New Jersey, 07601
- Recruiting
Clinical Trial Site
Houston, Texas, 77030
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Houston, Texas, 77030
- Recruiting
Clinical Trial Site
Jackson, Mississippi, 39216
- Recruiting
Clinical Trial Site
Minneapolis, Minnesota, 55404
- Recruiting
Clinical Trial Site
Miramar, Florida, 33025
- Recruiting
Clinical Trial Site
New York, New York, 10016
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Orlando, Florida, 32806
- Recruiting
Clinical Trial Site
Philadelphia, Pennsylvania, 19104-6061
- Recruiting
Clinical Trial Site
Philadelphia, Pennsylvania, 19104
- Recruiting
Clinical Trial Site
Philadelphia, Pennsylvania, 19107
- Recruiting
Clinical Trial Site
Phoenix, Arizona, 85016
- Recruiting
Clinical Trial Site
Snyder, Texas, 79549
- Recruiting
Clinical Trial Site
Stanford, California, 94305
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Tacoma, Washington, 98405
- Recruiting
Clinical Trial Site
The Bronx, New York, 10467
ClinicalTrials@alexion.com
Spain18 sites, 18 recruiting
- Recruiting
Clinical Trial Site
A Coruña, 15006
- Recruiting
Clinical Trial Site
Albacete, 02006
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Alicante, 03203
- Recruiting
Clinical Trial Site
Barakaldo, Biscay, 48903
- Recruiting
Clinical Trial Site
Barcelona, 08036
- Recruiting
Clinical Trial Site
Barcelona, 08305
- Recruiting
Clinical Trial Site
Burela de Cabo, Lugo, 27880
- Recruiting
Clinical Trial Site
Las Palmas, 35019
- Recruiting
Clinical Trial Site
Logroño, La Rioja, 26006
- Recruiting
Clinical Trial Site
Madrid, 28046
- Recruiting
Clinical Trial Site
Madrid, 28914
- Recruiting
Clinical Trial Site
Málaga, Málaga, 29010
- Recruiting
Clinical Trial Site
Murcia, 30120
- Recruiting
Clinical Trial Site
Oviedo, Principality of Asturias, 33011
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Reus, Tarragona, 43204
- Recruiting
Clinical Trial Site
Santiago de Compostela, A Coruña, 15706
- Recruiting
Clinical Trial Site
Valladolid, 47012
ClinicalTrials@alexion.com
- Recruiting
Clinical Trial Site
Zaragoza, 50009
ClinicalTrials@alexion.com
France11 sites, 11 recruiting
- Recruiting
Clinical Trial Site
Bron, Auvergne-Rhône-Alpes, 69500
Lioara Vanstraelen, +330427856020, lioara.vanstraelen@chu-lyon.fr
Noel Peretti
- Recruiting
Clinical Trial Site
Caen, Normandy, 14033
Patricio Aguiar, +351 964 728 526, patricio.aguiar@edu.ulisboa.pt
Marietta Musikas
- Recruiting
Clinical Trial Site
Clermont-Ferrand, Auvergne-Rhône-Alpes, 63003
Corinne Borderon, +33 0473750018, cborderon@chu-clermontferrand.fr
Corinne Borderon
- Recruiting
Clinical Trial Site
Clermont-Ferrand, Auvergne-Rhône-Alpes, 63100
Francois Feillet, +33 0624560804, f.feillet@chu-nancy.fr
Armand Abergel
- Recruiting
Clinical Trial Site
Dijon, 21000
Isabelle Simoneau, +33 380293332, isabelle.simoneau@chu-dijon.fr
Bruno Verges
- Recruiting
Clinical Trial Site
Grenoble, Auvergne-Rhône-Alpes, 38043
Patricio Aguiar, +351 964 728 526, patricio.aguiar@edu.ulisboa.pt
Anne Pagnier
- Recruiting
Clinical Trial Site
La Rochelle, New Aquitaine, 17000
Miguel Angel Barba, +34 967 59 72 14, mabarbar@sescam.jccm.es
Eloi Blanchet
- Recruiting
Clinical Trial Site
Nancy, Vandœuvre-lès-Nancy, 54500
Patricio Aguiar, +351 964 728 526, patricio.aguiar@edu.ulisboa.pt
Francois Feillet
- Recruiting
Clinical Trial Site
Nantes, 44093
Caroline Chevalier, +33 02 44 76 82 63, caroline.chevalier@chu-nantes.fr
Jerome Gournay
- Recruiting
Clinical Trial Site
Niort, New Aquitaine, 79021
Angelique Hubert, +33 0549782428, Angelique.hubert@ch-niort.fr
Catherine Borderie
- Recruiting
Clinical Trial Site
Paris, Île-de-France Region, 75743
Miguel Angel Barba, +34 967 59 72 14, mabarbar@sescam.jccm.es
Jean-Baptiste Arnoux
Italy9 sites, 9 recruiting
- Recruiting
Clinical Trial Site
Bari, Apulia, 70126
Albina Tummolo, +39 3357 306779, albina.tummolo@policlinico.ba.it
Albina Tummolo
- Recruiting
Clinical Trial Site
Bergamo, Lombardy, 24127
Marina Ferrario, +39 035 2673856, mferrario@asst-pg23.it
Lorenzo D'Antiga
- Recruiting
Clinical Trial Site
Florence, Tuscany, 50139
Giuseppe Indolfi, +39 055 566 2480, giuseppe.indolfi@meyer.it
Giuseppe Indolfi
- Recruiting
Clinical Trial Site
Genoa, Liguria, 16147
Sharon Giuliana, +39 01056363777, sharongiuliana@gaslini.org
Annalisa Madeo
- Recruiting
Clinical Trial Site
Milan, Lombardy, 20122
Domenico Azzolino, +39 0255033558, domenico.azzolino@policlinico.mi.it
Tiziano Angelo Lucchi
- Recruiting
Clinical Trial Site
Naples, Campania, 80131
Valentina Pecorella, +39 0817462673, v.pecorella@tigem.it
Giancarlo Parenti
- Recruiting
Clinical Trial Site
Padova, Veneto, 35128
Chiara Cazzorla, +39 049 8213569 ext. 7462, chiara.cazzorla@aopd.veneto.it
Alberto Burlina
- Recruiting
Clinical Trial Site
Turin, Piedmont, 10126
Giulia Massini, +39 011 3131873, giulia.massini@unito.it
Luisa de Sanctis
- Recruiting
Clinical Trial Site
Udine, Friuli Venezia Giulia, 33100
Enrica Epifani, +39 0432559264, enrica.epifani@asufc.sanita.fvg.it
Maurizio Scarpa
Russia6 sites, 6 recruiting
- Recruiting
Clinical Trial Site
Moscow, Moscow Oblast, 115446
Francois Feillet, +33 0624560804, f.feillet@chu-nancy.fr
Tatiana Strokova
- Recruiting
Clinical Trial Site
Moscow, Moscow Oblast, 119049
Natalia Pechatnikova, +7 916 519 62 43, orphancenter@mail.ru
Natalia Pechatnikova
- Recruiting
Clinical Trial Site
Moscow, Moscow Oblast, 119192
Maria Zharkova, +7 9057999137, zharkovamaria@mail.ru
Maria Zharkova
- Recruiting
Clinical Trial Site
Moscow, Moscow Oblast, 119296
Alexandr Potapov, +7 499 1341582, apotap@mail.ru
Alexandr Potapov
- Recruiting
Clinical Trial Site
Nizhny Novgorod, Nizhny Novgorod Oblast, 603950
Alla Lavrova, +7 831 436 03 84, lavrova26@mail.ru
Alla Lavrova
- Recruiting
Clinical Trial Site
Petersburg, Leningradskaya Oblast', 194100
Nikolay Vlasov, +7 921 905 7485, vlassovnik12@yahoo.com
Nikolay Vlasov
United Kingdom5 sites, 5 recruiting
- Recruiting
Clinical Trial Site
Birmingham, West Midlands, B4 6NH
Rachel Smith, +44 01213339907, Rachel.Smith148@nhs.net
Suresh Vijay
- Recruiting
Clinical Trial Site
Cambridge, Cambridgeshire, CB2 0QQ
Liz Morris, +44 01223 349810 ext. 59810, liz.morris@addenbrookes.nhs.uk
Patrick Deegan
- Recruiting
Clinical Trial Site
London, Greater London, WC1N 3BG
Ana Amado Fondo, 2034483272, anaamado.fondo@nhs.net
Elaine Murphy
- Recruiting
Clinical Trial Site
Manchester, Greater Manchester, M13 9WL
Miguel Angel Barba, +34 967 59 72 14, mabarbar@sescam.jccm.es
Simon Jones
- Recruiting
Clinical Trial Site
Salford, Greater Manchester, M6 8HD
Michaela Smyth, +44 01612061544, Michaela.smyth@nca.nhs.uk
Reena Sharma
Canada4 sites, 4 recruiting
- Recruiting
Clinical Trial Site
Edmonton, Alberta, T6G 2H7
Katherine Schellevis, +1 780 686 0266, schellev@ualberta.ca
Alicia Chan
- Recruiting
Clinical Trial Site
Halifax, Nova Scotia, B3H 1V8
Linda Hastie, +1 902 473 4487, Linda.Hastie@nshealth.ca
Julie Zhu
- Recruiting
Clinical Trial Site
London, Ontario, NGA 5W9
Lindsey McLeish, +1 519 685 8500
Chitra Prasad
- Recruiting
Clinical Trial Site
Québec, G1R 2J6
Davy Eng, +1 418 525 4444 ext. 48584, davy.eng@crchudequebec.ulaval.ca
Regen Drouin
Germany4 sites, 4 recruiting
- Recruiting
Clinical Trial Site
Berlin, 13353
Elisabeth Steinhagen-Thiessen, +44 01223274634, elisabeth.steinhagen-thiessen@charite.de
Elisabeth Steinhagen-Thiessen
- Recruiting
Clinical Trial Site
Essen, North Rhine-Westphalia, 45122
Friederike Spengler, +49 201 723 82232, frederike.spengler@uk-essen.de
Jassin Rashidi Alavijeh
- Recruiting
Clinical Trial Site
Mainz, Rhineland-Palatinate, 55131
Adriana Gutierrez, +49 6146 904820, Adriana.gutierrez@sphincs.de
Karl-Eugen Mengel
- Recruiting
Clinical Trial Site
Munich, Bavaria, 81377
Miguel Angel Barba, +34 967 59 72 14, mabarbar@sescam.jccm.es
Klaus Parhofer
Israel4 sites, 4 recruiting
- Recruiting
Clinical Trial Site
Haifa, 3436212
Liat Pritzker, +972 6232306, LiatPr@clalit.org.il
Reut Batcir
- Recruiting
Clinical Trial Site
Jerusalem, 9103102
Tehila Ben-Moshe, +972 26666482, tehilabm@szmc.org.il
Eyal Shteyer
- Recruiting
Clinical Trial Site
Jerusalem, 91120
Irina Rabkin, +972 528709824, irinar@hadassah.org.il
Mordechai Slae
- Recruiting
Clinical Trial Site
Petah Tikva, Central District, 49202
Yael Becker Ilani, +972 3 9253663, yaelbec@clalit.org.il
Yuval Landau
Brazil3 sites, 3 recruiting
- Recruiting
Clinical Trial Site
Campinas, São Paulo, 13083-878
Michelle Santos Rondon, +55 19 3521 8554, mirondon@unicamp.br
Marlone Da Silva
- Recruiting
Clinical Trial Site
São Paulo, 04020-041
Marcelo Yamamoto, +55 11 5081 9620 ext. 9630, marcelo.yamamoto@igeim.org.br
Ana Maria Martins
- Recruiting
Clinical Trial Site
São Paulo, 04543-011
Rodrigo Rocco, +55 11 99915 8070, rocco@hepatogastro.com.br
Rodrigo Rocco
Greece3 sites, 3 recruiting
- Recruiting
Clinical Trial Site
Athens, Attica, 115 27
Elissavet Georgiadou, +30 6944582433, lizettag@yahoo.com
Evangelia Lykopoulu
- Recruiting
Clinical Trial Site
Ioannina, Epirus, 455 00
Charalampos Milionis, +30 2651099904, hmilioni@uoi.gr
Charalampos Milionis
- Recruiting
Clinical Trial Site
Thessaloniki, Macedonia, 564 03
Maria Fotoulaki, +30 694 4949964, mfotoul@otenet.gr
Maria Fotoulaki
Mexico3 sites, 3 recruiting
- Recruiting
Clinical Trial Site
Aguascalientes, 20230
Jaime Lopez, +52 44 9189 8445, jasad16@yahoo.com.mx
Jamie Lopez
- Recruiting
Clinical Trial Site
Mexico City, 06720
Alejandra Consuelo-Sanchez, +52 55 52 289 917, draalejandraconsuelo@yahoo.com.mx
Alejandra Consuelo-Sanchez
- Recruiting
Clinical Trial Site
Zapopan, Jalisco, 45116
Jorge c, +52 33 1466 5163, jchavezmd@gmail.com
Jorge Chavez
Czechia2 sites, 2 recruiting
- Recruiting
Clinical Trial Site
Olomouc, 779 00
Jana Kňourková, +420 588 443 716, jana.knourkova@fnol.cz
Vratislav Smolka
- Recruiting
Clinical Trial Site
Prague, Central Bohemia, 128 00
Miguel Angel Barba, +34 967 59 72 14, mabarbar@sescam.jccm.es
Stella Reichmannova
Netherlands2 sites, 2 recruiting
- Recruiting
Clinical Trial Site
Amsterdam, North Holland, 1105
Nanet Sons, +31 205666360, n.sons@amsterdamumc.nl
Erik Stroes
- Recruiting
Clinical Trial Site
Amsterdam, North Holland, 1105
Patricio Aguiar, +351 964 728 526, patricio.aguiar@edu.ulisboa.pt
Marion Brands
Portugal2 sites, 2 recruiting
- Recruiting
Clinical Trial Site
Guimarães, Braga District, 4835
Olga Azevedo, +351 916 008 636, olgazevedo@yahoo.com.br
Olga Azevedo
- Recruiting
Clinical Trial Site
Lisbon, 1649
Patricio Aguiar, +351 964 728 526, patricio.aguiar@edu.ulisboa.pt
Patricio Aguiar
Saudi Arabia2 sites, 2 recruiting
- Recruiting
Clinical Trial Site
Riyadh, 11211
Hadeel Binomar, +966 11 4424988, hbinomar@kfshrc.edu.sa
Moeenaldeen Alsayed
- Recruiting
Clinical Trial Site
Riyadh, 11426
Hala Al Anizi, +966 566375166, AniziH7@MNGHA.MED.SA
Majid Alfadhel
Australia1 site, 1 recruiting
- Recruiting
Clinical Trial Site
New Lambton Heights, New South Wales, 2305
Chris Mitrevski, +61 2 4964 7447, Chris.Mitrevski@health.nsw.gov.au
Lay Theng Gan
Belgium1 site, 1 recruiting
- Recruiting
Clinical Trial Site
Ghent, East Flanders, 9000
Francois Feillet, +330624560804, f.feillet@chu-nancy.fr
Ruth De Bruyne
Bulgaria1 site, 1 recruiting
- Recruiting
Clinical Trial Site
Sofia, Sofia-Grad, 1612
Mila Baycheva, +359887443102, mila.baycheva@gmail.com
Mila Baycheva
Croatia1 site, 1 recruiting
- Recruiting
Clinical Trial Site
Zagreb, 10000
Ivo Baric, +385 1 2368318, ivo.baric@kbc-zagreb.hr
Ivo Baric
Ireland1 site, 1 recruiting
- Recruiting
Clinical Trial Site
Dublin, Leinster, D01 XD99
Ann Loughnane, +353 1 8921903, ann.loughnane@childrenshealthireland.ie
Joanne Hughes
Slovenia1 site, 1 recruiting
- Recruiting
Clinical Trial Site
Ljubljana, 1111
Damjana Nikovski, +386 522 3903, damjana.nikovski@kclj.si
Urh Groselj
About this study
Official title: 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.
Read the 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.
- Conditions
- Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2, Acid Lipase Deficiency, LIPA Deficiency
- Medical subject headings
- Wolman Disease, Cholesterol Ester Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| LAL Deficiency patients | Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Understanding of the variability, progression, identification and natural history of LAL Deficiency.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jul 2012 (estimated)
- Study start30 May 2013
- Primary completion30 Aug 2029 (estimated)
- Study completion30 Aug 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Lysosomal Acid Lipase DeficiencyStudies of the same condition, open and under way.
- More trials run by Alexion Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Alexion Pharmaceuticals, Study director, Sponsor GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01633489
- Sponsor's protocol ID
- ALX-LALD-501
- Acronym
- ALX-LALD-501
- Status last verified
- Mar 2026
- First submitted
- 29 Jun 2012
- Last updated
- 6 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
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.
PubMed 40781810Balwani 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.
PubMed 37222260Soll 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.
PubMed 31249784
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency
- ClinicalTrials.gov ID
- NCT01633489
- Acronym / sponsor ID
- ALX-LALD-501 / ALX-LALD-501
- Conditions
- Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease, Wolman Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2, Acid Lipase Deficiency, LIPA Deficiency
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Alexion Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 30 May 2013 (actual)
- Primary completion
- 30 Aug 2029 (estimated)
- Study completion
- 30 Aug 2029 (estimated)
- First posted
- 4 Jul 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| LAL Deficiency patients | – | –Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with a diagnosis of LAL Deficiency.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Understanding of the variability, progression, identification and natural history of LAL Deficiency.
Time frame: Ongoing
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2026.
- Derived from this study: PubMed 40781810D'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.
- Derived from this study: PubMed 37222260Balwani 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.
- Derived from this study: PubMed 31249784Soll 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.
- LAL Deficiency RegistryLink provided by the sponsor.
- Alexion WebsiteLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alexion Pharmaceuticals study director
Sponsor GmbH
104 sites in 22 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lysosomal Acid Lipase Deficiency and Cholesterol Ester Storage Disease, run by Alexion Pharmaceuticals, Inc. at 104 sites in 22 countries.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 104 sites in United States, Spain, France, Italy, Russia and 17 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alexion Pharmaceuticals, Inc. (Sponsor) (1-855-752-2356, clinicaltrials@alexion.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Understanding of the variability, progression, identification and natural history of LAL Deficiency. (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01633489, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Mar 2026.