New registry aims to unlock secrets of rare LAL deficiency

NCT ID NCT01633489

Recruiting now Knowledge-focused Sponsor: Alexion Pharmaceuticals, Inc. Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is a registry that will follow up to 300 people with LAL deficiency, a rare genetic disorder that causes fat buildup in the body. Researchers will collect information over time to better understand how the disease progresses and how it affects patients. No new treatments are being tested; the goal is simply to gather knowledge to improve future care.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this registry could help doctors better understand how LAL deficiency progresses and how to manage it.
What could go wrong: This is an observational study, not a treatment trial. It will not directly test any new drug or therapy, so it may not lead to immediate improvements.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

Cholesterol Ester Storage Disease cholesteryl ester storage disease lysosomal acid lipase deficiency Wolman disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ACID CHOLESTERYL ESTER HYDROLASE DEFICIENCY, TYPE 2 ACID LIPASE DEFICIENCY CHOLESTEROL ESTER STORAGE DISEASE LAL-DEFICIENCY LIPA DEFICIENCY LYSOSOMAL ACID LIPASE DEFICIENCY WOLMAN DISEASE

Contacts and locations

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Study contacts

Contact

Email: •••••@•••••

Locations

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Phoenix, Arizona, 85016, United States
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Stanford, California, 94305, United States

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Miramar, Florida, 33025, United States
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Orlando, Florida, 32806, United States
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Atlanta, Georgia, 30322, United States
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Chicago, Illinois, 60611, United States

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Boston, Massachusetts, 02115, United States

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Detroit, Michigan, 48236, United States

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Minneapolis, Minnesota, 55404, United States
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Jackson, Mississippi, 39216, United States
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Hackensack, NJ, 7601, New Jersey, 07601, United States
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New York, New York, 10016, United States

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The Bronx, New York, 10467, United States

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Philadelphia, Pennsylvania, 19104-6061, United States
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Philadelphia, Pennsylvania, 19104, United States
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Philadelphia, Pennsylvania, 19107, United States
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Houston, Texas, 77030, United States
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Houston, Texas, 77030, United States

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Snyder, Texas, 79549, United States
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Tacoma, Washington, 98405, United States
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New Lambton Heights, New South Wales, 2305, Australia
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Ghent, East Flanders, 9000, Belgium
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Campinas, São Paulo, 13083-878, Brazil
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São Paulo, 04020-041, Brazil
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São Paulo, 04543-011, Brazil
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Sofia, Sofia-Grad, 1612, Bulgaria
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Edmonton, Alberta, T6G 2H7, Canada
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Halifax, Nova Scotia, B3H 1V8, Canada
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London, Ontario, NGA 5W9, Canada
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Québec, G1R 2J6, Canada
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Zagreb, 10000, Croatia
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Prague, Central Bohemia, 128 00, Czechia
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Olomouc, 779 00, Czechia
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Bron, Auvergne-Rhône-Alpes, 69500, France
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Clermont-Ferrand, Auvergne-Rhône-Alpes, 63003, France
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Clermont-Ferrand, Auvergne-Rhône-Alpes, 63100, France
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Grenoble, Auvergne-Rhône-Alpes, 38043, France
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La Rochelle, New Aquitaine, 17000, France
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Niort, New Aquitaine, 79021, France
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Caen, Normandy, 14033, France
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Nancy, Vandœuvre-lès-Nancy, 54500, France
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Dijon, 21000, France
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Nantes, 44093, France
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Paris, Île-de-France Region, 75743, France
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Munich, Bavaria, 81377, Germany
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Essen, North Rhine-Westphalia, 45122, Germany
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Mainz, Rhineland-Palatinate, 55131, Germany
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Berlin, 13353, Germany
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Athens, Attica, 115 27, Greece
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Ioannina, Epirus, 455 00, Greece
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Thessaloniki, Macedonia, 564 03, Greece
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Dublin, Leinster, D01 XD99, Ireland
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Petah Tikva, Central District, 49202, Israel
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Haifa, 3436212, Israel
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Jerusalem, 9103102, Israel
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Jerusalem, 91120, Israel
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Bari, Apulia, 70126, Italy
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Naples, Campania, 80131, Italy
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Udine, Friuli Venezia Giulia, 33100, Italy
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Genoa, Liguria, 16147, Italy
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Bergamo, Lombardy, 24127, Italy
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Milan, Lombardy, 20122, Italy
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Turin, Piedmont, 10126, Italy
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Florence, Tuscany, 50139, Italy
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Padova, Veneto, 35128, Italy
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Zapopan, Jalisco, 45116, Mexico
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Aguascalientes, 20230, Mexico
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Mexico City, 06720, Mexico
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Amsterdam, North Holland, 1105, Netherlands
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Amsterdam, North Holland, 1105, Netherlands
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Guimarães, Braga District, 4835, Portugal
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Lisbon, 1649, Portugal
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Petersburg, Leningradskaya Oblast', 194100, Russia
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Moscow, Moscow Oblast, 115446, Russia
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Moscow, Moscow Oblast, 119049, Russia

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Moscow, Moscow Oblast, 119192, Russia
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Moscow, Moscow Oblast, 119296, Russia
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Nizhny Novgorod, Nizhny Novgorod Oblast, 603950, Russia
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Riyadh, 11211, Saudi Arabia
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Riyadh, 11426, Saudi Arabia
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Ljubljana, 1111, Slovenia
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Santiago de Compostela, A Coruña, 15706, Spain
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Barakaldo, Biscay, 48903, Spain
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Logroño, La Rioja, 26006, Spain
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Burela de Cabo, Lugo, 27880, Spain
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Málaga, Málaga, 29010, Spain
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Oviedo, Principality of Asturias, 33011, Spain

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Reus, Tarragona, 43204, Spain
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A Coruña, 15006, Spain
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Albacete, 02006, Spain

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Alicante, 03203, Spain
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Barcelona, 08036, Spain
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Barcelona, 08305, Spain
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Las Palmas, 35019, Spain
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Madrid, 28046, Spain
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Madrid, 28914, Spain
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Murcia, 30120, Spain
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Valladolid, 47012, Spain

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Zaragoza, 50009, Spain

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Cambridge, Cambridgeshire, CB2 0QQ, United Kingdom
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London, Greater London, WC1N 3BG, United Kingdom
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Manchester, Greater Manchester, M13 9WL, United Kingdom
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Salford, Greater Manchester, M6 8HD, United Kingdom
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Birmingham, West Midlands, B4 6NH, United Kingdom

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