A Study to Identify and Characterize LAL-D Patients in High-risk Populations

Stopped early

Conditions studied: Lysosomal Acid Lipase Deficiency

In brief

The objective of this study is to determine the frequency of Lysosomal Acid Lipase Deficiency (LAL D) by lysosomal acid lipase (LAL) enzyme activity assay in patients who are considered to be at risk.

Key facts

Study ID

NCT02345421

Run by

Alexion Pharmaceuticals, Inc.

People needed

640

Starts

2014-12-01

Expected to finish

2015-10-01

Last updated by the study team

2016-05-24

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Non-obese** patients with elevated low-density lipoprotein (LDL)
• Non-obese** patients with low high-density lipoprotein (HDL)
• Non-obese** patients with unexplained and persistently elevated liver transaminases,
• Non-obese** patients with hepatomegaly
• Patients with cryptogenic cirrhosis
• Patients with biopsy-proven microvesicular or mixed micro/macrovesicular steatosis without a known etiology
• Patients with presumed Familial Hypercholesterolemia (FH) in which genetic analysis was performed for the genes encoding the low-density lipoprotein receptor (LDLR), Apo-B and PCSK9 genes and no disease-causing mutations were identified
• Patients with presumed FH with unclear family history
• Patients with autosomal recessive hypercholesterolemia (other than homozygous FH)
• Patients with autosomal recessive low HDL of unknown etiology
• Also, patient must meet the following:
• Patient or patient's parent or legal guardian (if applicable) consents to participate in the study and provides informed consent prior to any study procedures being performed. If the patient is of minor age; he/she is willing to provide assent where required per local regulations, and if deemed able to do so.
• Patient is willing and able to comply with protocol requirements.
• Patients who do not fall into one of the aforementioned categories (cohorts) but are considered highly suspicious for LAL D should be tested to rule out the disorder outside of the study at the discretion of the Investigator.

You may not qualify if…

• Active viral hepatitis;
• Other confirmed genetic liver diseases (e.g., Wilson's disease, hemochromatosis, alpha 1-antitrypsin).

Where it is running

• Study site — Birmingham, Alabama, United States
• Study site — Phoenix, Arizona, United States
• Study site — Los Angeles, California, United States
• Study site — San Francisco, California, United States
• Study site — Gainesville, Florida, United States
• Study site — Jacksonville, Florida, United States
• Study site — Miami, Florida, United States
• Study site — New Orleans, Louisiana, United States
• Study site — Minneapolis, Minnesota, United States
• Study site — The Bronx, New York, United States
• Study site — Durham, North Carolina, United States
• Study site — Oklahoma City, Oklahoma, United States
• Study site — Portland, Oregon, United States
• Study site — Houston, Texas, United States
• Study site — San Antonio, Texas, United States

Full record on ClinicalTrials.gov

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