Lysosomal Acid Lipase DeficiencyNCT02345421
A Study to Identify and Characterize LAL-D Patients in High-risk Populations
An observational study of Lysosomal Acid Lipase Deficiency, run by Alexion Pharmaceuticals, Inc. at 15 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Lysosomal Acid Lipase Deficiency
- How many people
- 640 participants
- Where
- 15 sitesUnited States
- Study dates
- Dec 2014to Oct 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients >2 years of age who are at risk for a diagnosis of LAL D
Who may be able to join
- 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
Show all 14Show fewer
- 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.
Who cannot join
- Active viral hepatitis;
- Other confirmed genetic liver diseases (e.g., Wilson's disease, hemochromatosis, alpha 1-antitrypsin).
Trial locations and contacts
15 sites in 1 country.
15 sites in 1 country
United States15 sites
Study site
Birmingham, Alabama
Study site
Durham, North Carolina
Study site
Gainesville, Florida
Study site
Houston, Texas
Study site
Jacksonville, Florida
Study site
Los Angeles, California
Study site
Miami, Florida
Study site
Minneapolis, Minnesota
Study site
New Orleans, Louisiana
Study site
Oklahoma City, Oklahoma
Study site
Phoenix, Arizona
Study site
Portland, Oregon
Study site
San Antonio, Texas
Study site
San Francisco, California
Study site
The Bronx, New York
About this study
Official title: 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.
- Conditions
- Lysosomal Acid Lipase Deficiency
- Keywords
- LAL D, CESD, NASH, NAFLD, Wilson's, Niemann Pick, Familial Hypercholesterolemia
- Medical subject headings
- Wolman Disease, Non-alcoholic Fatty Liver Disease, Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| At risk population | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: approximately 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2015 (estimated)
- Study startDec 2014
- Primary completionSep 2015
- Study completionOct 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lysosomal Acid Lipase DeficiencyStudies of the same condition, open and under way.
- More trials run by Alexion Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Enrolment
- 640 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02345421
- Sponsor's protocol ID
- LAL-CSS01
- Status last verified
- May 2016
- First submitted
- 19 Jan 2015
- Last updated
- 24 May 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 May 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations
- ClinicalTrials.gov ID
- NCT02345421
- Acronym / sponsor ID
- LAL-CSS01
- Conditions
- Lysosomal Acid Lipase Deficiency
- Keywords
- LAL D, CESD, NASH, NAFLD, Wilson's, Niemann Pick, Familial Hypercholesterolemia
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 640 participants (actual)
- Lead sponsor
- Alexion Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- Dec 2014
- Primary completion
- Sep 2015 (actual)
- Study completion
- Oct 2015 (actual)
- First posted
- 26 Jan 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| At risk population | – | – |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients >2 years of age who are at risk for a diagnosis of LAL D
Key inclusion criteria (14 listed)
- 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
Key exclusion criteria (2 listed)
- Active viral hepatitis;
- Other confirmed genetic liver diseases (e.g., Wilson's disease, hemochromatosis, alpha 1-antitrypsin).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 May 2016.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
15 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lysosomal Acid Lipase Deficiency, run by Alexion Pharmaceuticals, Inc. at 15 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 24 May 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early. Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
LAL D frequency based on LAL enzyme assay. (time frame: approximately 1 month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 May 2016.