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

Lysosomal Acid Lipase Deficiency Clinical Trial

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02345421
• Other study ID #: LAL-CSS01
• Status: Terminated
• Phase: N/A
• First received: January 19, 2015
• Last updated: May 23, 2016
• Start date: December 2014
• Est. completion date: October 2015

Study information

• Verified date: May 2016
• Source: Alexion Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review BoardUnited Kingdom: Research Ethics CommitteeSpain: Ethics CommitteePortugal: Ethics Committee for Clinical ResearchPortugal: Data Protection AgencyNetherlands: Medical Ethics Review Committee (METC)Italy: Ministry of HealthItaly: Ethics CommitteeBrazil: Ethics CommitteeArgentina: Human Research Bioethics CommitteeMexico: Institutional Review BoardGermany: Ethics CommissionBelgium: Institutional Review BoardJapan: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 640
• Est. completion date: October 2015
• Est. primary completion date: September 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 2 Years and older

Eligibility

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 Design

Observational Model: Case-Only

Related Conditions & MeSH terms

• Lysosomal Acid Lipase Deficiency
• Wolman Disease

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Alexion Pharmaceuticals

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No