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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02345421
Recruitment Status : Terminated
First Posted : January 26, 2015
Last Update Posted : May 24, 2016
Information provided by (Responsible Party):
Alexion Pharmaceuticals

Brief 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.

Condition or disease
Lysosomal Acid Lipase Deficiency

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Study Type : Observational
Actual Enrollment : 640 participants
Observational Model: Case-Only
Official Title: A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations
Study Start Date : December 2014
Actual Primary Completion Date : September 2015
Actual Study Completion Date : October 2015

At risk population

Primary Outcome Measures :
  1. LAL D frequency based on LAL enzyme assay. [ Time Frame: approximately 1 month ]
    The endpoint of this study is the frequency of LAL D in at-risk patients, based on results from the LAL enzyme assay.

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients >2 years of age who are at risk for a diagnosis of LAL D

Inclusion Criteria:

  1. Non-obese** patients with elevated low-density lipoprotein (LDL)
  2. Non-obese** patients with low high-density lipoprotein (HDL)
  3. Non-obese** patients with unexplained and persistently elevated liver transaminases,
  4. Non-obese** patients with hepatomegaly
  5. Patients with cryptogenic cirrhosis
  6. Patients with biopsy-proven microvesicular or mixed micro/macrovesicular steatosis without a known etiology
  7. 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
  8. Patients with presumed FH with unclear family history
  9. Patients with autosomal recessive hypercholesterolemia (other than homozygous FH)
  10. 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.

Exclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02345421

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United States, Alabama
Birmingham, Alabama, United States
United States, Arizona
Phoenix, Arizona, United States
United States, California
Los Angeles, California, United States
San Francisco, California, United States
United States, Florida
Gainesville, Florida, United States
Jacksonville, Florida, United States
Miami, Florida, United States
United States, Louisiana
New Orleans, Louisiana, United States
United States, Minnesota
Minneapolis, Minnesota, United States
United States, New York
Bronx, New York, United States
United States, North Carolina
Durham, North Carolina, United States
United States, Oklahoma
Oklahoma City, Oklahoma, United States
United States, Oregon
Portland, Oregon, United States
United States, Texas
Houston, Texas, United States
San Antonio, Texas, United States
Sponsors and Collaborators
Alexion Pharmaceuticals

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Responsible Party: Alexion Pharmaceuticals Identifier: NCT02345421     History of Changes
Other Study ID Numbers: LAL-CSS01
First Posted: January 26, 2015    Key Record Dates
Last Update Posted: May 24, 2016
Last Verified: May 2016

Keywords provided by Alexion Pharmaceuticals:
Niemann Pick
Familial Hypercholesterolemia

Additional relevant MeSH terms:
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Wolman Disease
Cholesterol Ester Storage Disease
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Metabolic Diseases