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

Study Identifier:
LAL-CSS01
ClinicalTrials.gov Identifier:
NCT02345421
EudraCT Identifier:
N/A
EU CT ID:
N/A
Sponsor:
Alexion Pharmaceuticals, Inc.
Study Contact Information:
N/A
Other

Study Details

Medical Condition
  • Unmapped
Study Drug
    Date
    Dec 2014 - Sep 2015
    Phase 1
    Phase 2
    Phase 3
    Phase 4
    N/A
    Patient Requirements
    Sex: Female & Male
    Age: 2+ years
    Requirements Information
    Inclusion and Exclusion Criteria
    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
    • 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.
    Exclusion Criteria
    • Active viral hepatitis;
    • Other confirmed genetic liver diseases (e.g., Wilson's disease, hemochromatosis, alpha 1-antitrypsin).
    Sex
    Female & Male
    Age
    2+ years

    Study Details

    Medical Condition
    • Unmapped
    Study Drug
      Date
      Dec 2014 - Sep 2015
      Phase 1
      Phase 2
      Phase 3
      Phase 4
      N/A
      Patient Requirements
      Sex: Female & Male
      Age: 2+ years years
      Requirements Information
      Inclusion and Exclusion Criteria
      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
      • 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.
      Exclusion Criteria
      • Active viral hepatitis;
      • Other confirmed genetic liver diseases (e.g., Wilson's disease, hemochromatosis, alpha 1-antitrypsin).

      Protocol 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.

      Trial Locations

      Location
      Status
      Location
      Birmingham, Alabama, United States
      Status
      N/A
      Location
      Phoenix, Arizona, United States
      Status
      N/A
      Location
      Los Angeles, California, United States
      Status
      N/A
      Location
      San Francisco, California, United States
      Status
      N/A
      Location
      Gainesville, Florida, United States
      Status
      N/A
      Location
      Jacksonville, Florida, United States
      Status
      N/A
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