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

May 23, 2016 updated by: Alexion Pharmaceuticals

A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations

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.

Study Overview

Status

Terminated

Conditions

Study Type

Observational

Enrollment (Actual)

640

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients >2 years of age who are at risk for a diagnosis of LAL D

Description

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).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
At risk population

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
approximately 1 month

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Alexion Pharmaceuticals

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

December 1, 2014

Primary Completion (ACTUAL)

September 1, 2015

Study Completion (ACTUAL)

October 1, 2015

Study Registration Dates

First Submitted

January 19, 2015

First Submitted That Met QC Criteria

January 19, 2015

First Posted (ESTIMATE)

January 26, 2015

Study Record Updates

Last Update Posted (ESTIMATE)

May 24, 2016

Last Update Submitted That Met QC Criteria

May 23, 2016

Last Verified

May 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • LAL-CSS01

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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