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New registry aims to unlock secrets of rare LAL deficiency

NCT ID NCT01633489

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 300 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2013

Expected to finish

Aug 2029

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

All patients with a diagnosis of LAL Deficiency.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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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

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    104 sites in 22 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • Clinical Trial Site

    RECRUITING

    Phoenix, Arizona, 85016, United States

  • Clinical Trial Site

    RECRUITING

    Stanford, California, 94305, United States

    Contact Email: •••••@•••••

  • Clinical Trial Site

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    Miramar, Florida, 33025, United States

  • Clinical Trial Site

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    Orlando, Florida, 32806, United States

  • Clinical Trial Site

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    Atlanta, Georgia, 30322, United States

  • Clinical Trial Site

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    Chicago, Illinois, 60611, United States

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Email: •••••@•••••

  • Clinical Trial Site

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    Detroit, Michigan, 48236, United States

    Contact Email: •••••@•••••

  • Clinical Trial Site

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    Minneapolis, Minnesota, 55404, United States

  • Clinical Trial Site

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    Jackson, Mississippi, 39216, United States

  • Clinical Trial Site

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    Hackensack, NJ, 7601, New Jersey, 07601, United States

  • Clinical Trial Site

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    New York, New York, 10016, United States

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    The Bronx, New York, 10467, United States

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Philadelphia, Pennsylvania, 19104-6061, United States

  • Clinical Trial Site

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    Philadelphia, Pennsylvania, 19104, United States

  • Clinical Trial Site

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    Philadelphia, Pennsylvania, 19107, United States

  • Clinical Trial Site

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    Houston, Texas, 77030, United States

  • Clinical Trial Site

    RECRUITING

    Houston, Texas, 77030, United States

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Snyder, Texas, 79549, United States

  • Clinical Trial Site

    RECRUITING

    Tacoma, Washington, 98405, United States

  • Clinical Trial Site

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    New Lambton Heights, New South Wales, 2305, Australia

  • Clinical Trial Site

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    Ghent, East Flanders, 9000, Belgium

  • Clinical Trial Site

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    Campinas, São Paulo, 13083-878, Brazil

  • Clinical Trial Site

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    São Paulo, 04020-041, Brazil

  • Clinical Trial Site

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    São Paulo, 04543-011, Brazil

  • Clinical Trial Site

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    Sofia, Sofia-Grad, 1612, Bulgaria

  • Clinical Trial Site

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    Edmonton, Alberta, T6G 2H7, Canada

  • Clinical Trial Site

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    Halifax, Nova Scotia, B3H 1V8, Canada

  • Clinical Trial Site

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    London, Ontario, NGA 5W9, Canada

  • Clinical Trial Site

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    Québec, G1R 2J6, Canada

  • Clinical Trial Site

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    Zagreb, 10000, Croatia

  • Clinical Trial Site

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    Prague, Central Bohemia, 128 00, Czechia

  • Clinical Trial Site

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    Olomouc, 779 00, Czechia

  • Clinical Trial Site

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    Bron, Auvergne-Rhône-Alpes, 69500, France

  • Clinical Trial Site

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    Clermont-Ferrand, Auvergne-Rhône-Alpes, 63003, France

  • Clinical Trial Site

    RECRUITING

    Clermont-Ferrand, Auvergne-Rhône-Alpes, 63100, France

  • Clinical Trial Site

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    Grenoble, Auvergne-Rhône-Alpes, 38043, France

  • Clinical Trial Site

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    La Rochelle, New Aquitaine, 17000, France

  • Clinical Trial Site

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    Niort, New Aquitaine, 79021, France

  • Clinical Trial Site

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    Caen, Normandy, 14033, France

  • Clinical Trial Site

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    Nancy, Vandœuvre-lès-Nancy, 54500, France

  • Clinical Trial Site

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    Dijon, 21000, France

  • Clinical Trial Site

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    Nantes, 44093, France

  • Clinical Trial Site

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    Paris, Île-de-France Region, 75743, France

  • Clinical Trial Site

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    Munich, Bavaria, 81377, Germany

  • Clinical Trial Site

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    Essen, North Rhine-Westphalia, 45122, Germany

  • Clinical Trial Site

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    Mainz, Rhineland-Palatinate, 55131, Germany

  • Clinical Trial Site

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    Berlin, 13353, Germany

  • Clinical Trial Site

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    Athens, Attica, 115 27, Greece

  • Clinical Trial Site

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    Ioannina, Epirus, 455 00, Greece

  • Clinical Trial Site

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    Thessaloniki, Macedonia, 564 03, Greece

  • Clinical Trial Site

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    Dublin, Leinster, D01 XD99, Ireland

  • Clinical Trial Site

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    Petah Tikva, Central District, 49202, Israel

  • Clinical Trial Site

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    Haifa, 3436212, Israel

  • Clinical Trial Site

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    Jerusalem, 9103102, Israel

  • Clinical Trial Site

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    Jerusalem, 91120, Israel

  • Clinical Trial Site

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    Bari, Apulia, 70126, Italy

  • Clinical Trial Site

    RECRUITING

    Naples, Campania, 80131, Italy

  • Clinical Trial Site

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    Udine, Friuli Venezia Giulia, 33100, Italy

  • Clinical Trial Site

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    Genoa, Liguria, 16147, Italy

  • Clinical Trial Site

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    Bergamo, Lombardy, 24127, Italy

  • Clinical Trial Site

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    Milan, Lombardy, 20122, Italy

  • Clinical Trial Site

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    Turin, Piedmont, 10126, Italy

  • Clinical Trial Site

    RECRUITING

    Florence, Tuscany, 50139, Italy

  • Clinical Trial Site

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    Padova, Veneto, 35128, Italy

  • Clinical Trial Site

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    Zapopan, Jalisco, 45116, Mexico

  • Clinical Trial Site

    RECRUITING

    Aguascalientes, 20230, Mexico

  • Clinical Trial Site

    RECRUITING

    Mexico City, 06720, Mexico

  • Clinical Trial Site

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    Amsterdam, North Holland, 1105, Netherlands

  • Clinical Trial Site

    RECRUITING

    Amsterdam, North Holland, 1105, Netherlands

  • Clinical Trial Site

    RECRUITING

    Guimarães, Braga District, 4835, Portugal

  • Clinical Trial Site

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    Lisbon, 1649, Portugal

  • Clinical Trial Site

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    Petersburg, Leningradskaya Oblast', 194100, Russia

  • Clinical Trial Site

    RECRUITING

    Moscow, Moscow Oblast, 115446, Russia

  • Clinical Trial Site

    RECRUITING

    Moscow, Moscow Oblast, 119049, Russia

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Moscow, Moscow Oblast, 119192, Russia

  • Clinical Trial Site

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    Moscow, Moscow Oblast, 119296, Russia

  • Clinical Trial Site

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    Nizhny Novgorod, Nizhny Novgorod Oblast, 603950, Russia

  • Clinical Trial Site

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    Riyadh, 11211, Saudi Arabia

  • Clinical Trial Site

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    Riyadh, 11426, Saudi Arabia

  • Clinical Trial Site

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    Ljubljana, 1111, Slovenia

  • Clinical Trial Site

    RECRUITING

    Santiago de Compostela, A Coruña, 15706, Spain

  • Clinical Trial Site

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    Barakaldo, Biscay, 48903, Spain

  • Clinical Trial Site

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    Logroño, La Rioja, 26006, Spain

  • Clinical Trial Site

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    Burela de Cabo, Lugo, 27880, Spain

  • Clinical Trial Site

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    Málaga, Málaga, 29010, Spain

  • Clinical Trial Site

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    Oviedo, Principality of Asturias, 33011, Spain

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Reus, Tarragona, 43204, Spain

  • Clinical Trial Site

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    A Coruña, 15006, Spain

  • Clinical Trial Site

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    Albacete, 02006, Spain

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Alicante, 03203, Spain

  • Clinical Trial Site

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    Barcelona, 08036, Spain

  • Clinical Trial Site

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    Barcelona, 08305, Spain

  • Clinical Trial Site

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    Las Palmas, 35019, Spain

  • Clinical Trial Site

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    Madrid, 28046, Spain

  • Clinical Trial Site

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    Madrid, 28914, Spain

  • Clinical Trial Site

    RECRUITING

    Murcia, 30120, Spain

  • Clinical Trial Site

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    Valladolid, 47012, Spain

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Zaragoza, 50009, Spain

    Contact Email: •••••@•••••

  • Clinical Trial Site

    RECRUITING

    Cambridge, Cambridgeshire, CB2 0QQ, United Kingdom

  • Clinical Trial Site

    RECRUITING

    London, Greater London, WC1N 3BG, United Kingdom

  • Clinical Trial Site

    RECRUITING

    Manchester, Greater Manchester, M13 9WL, United Kingdom

  • Clinical Trial Site

    RECRUITING

    Salford, Greater Manchester, M6 8HD, United Kingdom

  • Clinical Trial Site

    RECRUITING

    Birmingham, West Midlands, B4 6NH, United Kingdom

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