A Study to Identify and Characterize LAL-D Patients in High-risk Populations
A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations
1 other identifier
observational
640
1 country
15
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Dec 2014
Shorter than P25 for all trials
15 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
December 1, 2014
CompletedFirst Submitted
Initial submission to the registry
January 19, 2015
CompletedFirst Posted
Study publicly available on registry
January 26, 2015
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 1, 2015
CompletedStudy Completion
Last participant's last visit for all outcomes
October 1, 2015
CompletedMay 24, 2016
May 1, 2016
9 months
January 19, 2015
May 23, 2016
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
LAL D frequency based on LAL enzyme assay.
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
Study Arms (1)
At risk population
Eligibility Criteria
Patients \>2 years of age who are at risk for a diagnosis of LAL D
You may qualify if:
- 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.
You may not qualify if:
- Active viral hepatitis;
- Other confirmed genetic liver diseases (e.g., Wilson's disease, hemochromatosis, alpha 1-antitrypsin).
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (15)
Unknown Facility
Birmingham, Alabama, United States
Unknown Facility
Phoenix, Arizona, United States
Unknown Facility
Los Angeles, California, United States
Unknown Facility
San Francisco, California, United States
Unknown Facility
Gainesville, Florida, United States
Unknown Facility
Jacksonville, Florida, United States
Unknown Facility
Miami, Florida, United States
Unknown Facility
New Orleans, Louisiana, United States
Unknown Facility
Minneapolis, Minnesota, United States
Unknown Facility
The Bronx, New York, United States
Unknown Facility
Durham, North Carolina, United States
Unknown Facility
Oklahoma City, Oklahoma, United States
Unknown Facility
Portland, Oregon, United States
Unknown Facility
Houston, Texas, United States
Unknown Facility
San Antonio, Texas, United States
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 19, 2015
First Posted
January 26, 2015
Study Start
December 1, 2014
Primary Completion
September 1, 2015
Study Completion
October 1, 2015
Last Updated
May 24, 2016
Record last verified: 2016-05