Clinical trial NCT02345421: A Study to Identify and Characterize LAL-D Patients in High-risk Populations
Official title: A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Lysosomal Acid Lipase Deficiency
Keywords: LAL D
CESD
NASH
NAFLD
Wilson's
Niemann Pick
Familial Hypercholesterolemia
Lead sponsor: Alexion Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2015-01-26
Enrollment: 640
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients \>2 years of age who are at risk for a diagnosis of LAL D

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.


Eligibility criteria: 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).

Primary outcomes:
measure: LAL D frequency based on LAL enzyme assay.
timeFrame: approximately 1 month
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
state: Alabama
city: Phoenix
country: United States
state: Arizona
city: Los Angeles
country: United States
state: California
city: San Francisco
country: United States
state: California
city: Gainesville
country: United States
state: Florida
city: Jacksonville
country: United States
state: Florida
city: Miami
country: United States
state: Florida
city: New Orleans
country: United States
state: Louisiana
city: Minneapolis
country: United States
state: Minnesota
city: Bronx
country: United States
state: New York
city: Durham
country: United States
state: North Carolina
city: Oklahoma City
country: United States
state: Oklahoma
city: Portland
country: United States
state: Oregon
city: Houston
country: United States
state: Texas
city: San Antonio
country: United States
state: Texas
Study officials:
References: