TerminatedNot Applicable

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

United States640 participantsStarted 2014-12

Plain-language summary

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.

Who can participate

Age range2 Years

SexALL

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Inclusion criteria

✓. 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

What they're measuring

LAL D frequency based on LAL enzyme assay.

Timeframe: approximately 1 month

Trial details

NCT IDNCT02345421

SponsorAlexion Pharmaceuticals, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2015-09

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