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

NCT ID: NCT02345421

Last Updated: 2016-05-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

640 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-12-31

Study Completion Date

2015-10-31

Brief Summary

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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.

Detailed Description

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Conditions

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Lysosomal Acid Lipase Deficiency

Study Design

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Observational Model Type

CASE_ONLY

Study Groups

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At risk population

No interventions assigned to this group

Eligibility Criteria

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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).
Minimum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Alexion Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Birmingham, Alabama, United States

Site Status

Phoenix, Arizona, United States

Site Status

Los Angeles, California, United States

Site Status

San Francisco, California, United States

Site Status

Gainesville, Florida, United States

Site Status

Jacksonville, Florida, United States

Site Status

Miami, Florida, United States

Site Status

New Orleans, Louisiana, United States

Site Status

Minneapolis, Minnesota, United States

Site Status

The Bronx, New York, United States

Site Status

Durham, North Carolina, United States

Site Status

Oklahoma City, Oklahoma, United States

Site Status

Portland, Oregon, United States

Site Status

Houston, Texas, United States

Site Status

San Antonio, Texas, United States

Site Status

Countries

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United States

Other Identifiers

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LAL-CSS01

Identifier Type: -

Identifier Source: org_study_id

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