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Registry for patients with Lysosomal Acid Lipase Deficiency

An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency

Observational Alexion Pharmaceuticals, Inc. · NCT01633489

This study is collecting information from people with Lysosomal Acid Lipase Deficiency to help improve their care and treatment.

Quick facts

Study typeObservational
Enrollment300 (estimated)
SexAll
SponsorAlexion Pharmaceuticals, Inc. Industry-sponsored
Locations104 sites (Phoenix, Arizona and 103 other locations)
Trial IDNCT01633489 on ClinicalTrials.gov

What this trial studies

This observational, multi-center, international registry aims to collect longitudinal data on patients with Lysosomal Acid Lipase (LAL) Deficiency, a rare lysosomal storage disorder. The registry will gather information to enhance understanding and improve the care and treatment of individuals affected by this condition. Participation is voluntary for both patients and physicians, and the data collected will contribute to a knowledge base that addresses the challenges associated with LAL Deficiency.

Who should consider this trial

Good fit: Ideal candidates for this registry are individuals with a confirmed diagnosis of Lysosomal Acid Lipase Deficiency.

Not a fit: Patients currently participating in an Alexion-sponsored clinical trial may not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could lead to improved management and treatment strategies for patients with LAL Deficiency.

How similar studies have performed: While this registry approach is not novel, it builds on previous successful observational studies that have improved understanding of rare diseases.

Eligibility criteria

Show full inclusion / exclusion criteria 
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.

Where this trial is running

Phoenix, Arizona and 103 other locations

+54 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Lysosomal Acid Lipase DeficiencyCholesterol Ester Storage DiseaseWolman DiseaseAcid Cholesteryl Ester Hydrolase Deficiency, Type 2Acid Lipase DeficiencyLIPA DeficiencyLAL-Deficiency
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.