Recruiting

Observational Study

Sponsor:

Alexion Pharmaceuticals, Inc.

Code:

NCT01633489

Conditions

Lysosomal Acid Lipase Deficiency

Cholesterol Ester Storage Disease

Wolman Disease

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Acid Lipase Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Lysosomal Acid Lipase Deficiency

Cholesterol Ester Storage Disease

Wolman Disease

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Acid Lipase Deficiency

Study ID

NCT01633489

Start date

May 30, 2013

Status verified date

Mar, 2026

Completion date

Aug 30, 2029

Anticipated

Primary completion date

Aug 30, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

LAL Deficiency patients

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

Primary outcome measure

  • Understanding of the variability, progression, identification and natural history of LAL Deficiency. [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Alexion Pharmaceuticals, Inc. (Sponsor)

1-855-752-2356clinicaltrials@alexion.com

Locations

Clinical Trial Site

Recruiting

Phoenix, Arizona, United States, 85016

Clinical Trial Site

Recruiting

Stanford, California, United States, 94305

Contacts

ClinicalTrials@alexion.com

Clinical Trial Site

Recruiting

Miramar, Florida, United States, 33025

Clinical Trial Site

Recruiting

Orlando, Florida, United States, 32806

Clinical Trial Site

Recruiting

Atlanta, Georgia, United States, 30322

Clinical Trial Site

Recruiting

Chicago, Illinois, United States, 60611

Contacts

ClinicalTrials@alexion.com

Clinical Trial Site

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

ClinicalTrials@alexion.com

Clinical Trial Site

Recruiting

Detroit, Michigan, United States, 48236

Contacts

ClinicalTrials@alexion.com

Clinical Trial Site

Recruiting

Minneapolis, Minnesota, United States, 55404

Clinical Trial Site

Recruiting

Jackson, Mississippi, United States, 39216

Clinical Trial Site

Recruiting

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

Clinical Trial Site

Recruiting

New York, New York, United States, 10016

Contacts

ClinicalTrials@alexion.com

Clinical Trial Site

Recruiting

The Bronx, New York, United States, 10467

Contacts

ClinicalTrials@alexion.com

Clinical Trial Site

Recruiting

Philadelphia, Pennsylvania, United States, 19104-6061

Clinical Trial Site

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Clinical Trial Site

Recruiting

Philadelphia, Pennsylvania, United States, 19107

Clinical Trial Site

Recruiting

Houston, Texas, United States, 77030

Contacts

ClinicalTrials@alexion.com

Clinical Trial Site

Recruiting

Houston, Texas, United States, 77030

Clinical Trial Site

Recruiting

Snyder, Texas, United States, 79549

Clinical Trial Site

Recruiting

Tacoma, Washington, United States, 98405

Clinical Trial Site

Recruiting

Edmonton, Alberta, Canada, T6G 2H7

Contacts

Katherine Schellevis

+1 780 686 0266schellev@ualberta.ca

Principal Investigator:

Alicia Chan

Clinical Trial Site

Recruiting

Halifax, Nova Scotia, Canada, B3H 1V8

Contacts

Linda Hastie

+1 902 473 4487Linda.Hastie@nshealth.ca

Principal Investigator:

Julie Zhu

Clinical Trial Site

Recruiting

London, Ontario, Canada, NGA 5W9

Contacts

Lindsey McLeish

+1 519 685 8500

Principal Investigator:

Chitra Prasad

Clinical Trial Site

Recruiting

Québec, Canada, G1R 2J6

Contacts

Davy Eng

+1 418 525 4444davy.eng@crchudequebec.ulaval.ca

Principal Investigator:

Regen Drouin

More Information

Sponsor

Alexion Pharmaceuticals, Inc.

Last update posted

Mar 6, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Alexion Pharmaceuticals, Inc. on 2026-03-06.