Lysosomal Acid Lipase DeficiencyNCT02926872
Screening for Lysosomal Acid Lipase Deficiency
An observational study of Lysosomal Acid Lipase Deficiency, run by Alexion Pharmaceuticals, Inc. at 2 sites in United States.
Trial summary
The primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients should be tested for LAL-D. Read more about this study
- Who is it for?
- Ages 2 to 16 years
- Conditions the study is for
- Lysosomal Acid Lipase Deficiency
- How many people
- 22 participants
- Where
- 2 sitesUnited States
- Study dates
- Nov 2016to 5 Jun 2017
- 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 to 16 years
- All sexes
- No healthy volunteers
- Child
Study population: Male or female patients who are between 2 and 16 years of age (inclusive) will be eligible for the study if they meet all components of Criterion A and/or Criterion B below, provided that these abnormalities are of unknown or unconfirmed etiology and the patient has not previously had a normal LAL enzyme activity result, has not received treatment with sebelipase alfa (Kanuma), and has no evidence of neurological dysfunction within the past year. (Note: Female patients who are of childbearing potential or are pregnant may participate in this study
Who may be able to join
- Male or female patient is ≥ 2 to ≤ 16 years of age at the date of informed consent. (Note: Female patients who are of childbearing potential or are pregnant may participate in this study.)
- Patient or patient's parent or legal guardian (if applicable) consents to participation in the study. 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 meets all components of Criterion A and/or Criterion B below.
- Criterion A: Patient has dyslipidemia, defined as having at least one of the following lipid abnormalities based on a local laboratory result obtained within 3 months prior to the date of informed consent (or at the screening visit, as applicable):
- LDL-c ≥ 130 mg/dL HDL c ≤ 40 mg/dL (male patients) or ≤ 50 mg/dL (female patients) Note: For patients receiving a lipid-lowering medication (LLM), the patient must have been on a stable dose of the LLM for at least 4 weeks prior to the serum lipid result.
- AND
Show all 9Show fewer
- Patient has at least one of the following liver or spleen abnormalities:
- Hepatomegaly, as determined by the investigator based on a physical examination or imaging procedure; Splenomegaly, as determined by the investigator based on a physical examination or imaging procedure; ALT >75 U/L or ALT >1.5x the upper limit of normal (ULN) (based on age- and gender-specific normal ranges of the local laboratory performing the assay) within 3 months prior to the date of informed consent (or at the screening visit, as applicable).
- Criterion B: Patient has steatosis (microvesicular or mixed macro/microvesicular), hepatic fibrosis, and/or cirrhosis of unknown etiology, as determined from a liver biopsy performed within the previous 3 years. (Note: For patients who have received a liver transplantation, the liver biopsy results must have been obtained prior to the date of the liver transplantation.)
Who cannot join
- Patient has a confirmed cause of liver disease other than LAL-D.
- Patient has genetically confirmed heterozygous familial hypercholesteremia or other secondary causes of hypercholesterolemia.
- Patient has current evidence of neurological dysfunction and/or a history of neurological dysfunction within one year prior to the date of informed consent.
- Patient has been previously screened for LAL-D and found to have normal enzyme activity based on the reference range of the laboratory performing the assay.
- Patient is currently receiving treatment with sebelipase alfa (Kanuma) or has previously participated in a clinical study with sebelipase alfa (Kanuma).
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Children's Healthcare of Atlanta
Atlanta, Georgia, 30342
Texas Children's Hospital, Baylor College of Medicine
Houston, Texas, 77030
About this study
Official title: SCREENING FOR LYSOSOMAL ACID LIPASE DEFICIENCY AS THE UNDERLYING SOURCE OF HEPATIC INJURY IN PEDIATRIC PATIENTS WITH EVIDENCE OF ABNORMAL CLINICAL OR BIOCHEMICAL TESTS (DETECT)
The primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients should be tested for LAL-D.
- Conditions
- Lysosomal Acid Lipase Deficiency
- Being tested
- There is no intervention in the study
- Keywords
- Screening, Hepatic Injury, Pediatric Patients
- Medical subject headings
- Wolman Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
There is no intervention in the studyOther
| Study group | Role | What they receive |
|---|---|---|
| Entire Study Population | Male or female patients who are between 2 and 16 years of age (inclusive) will be eligible for the study if they meet all components of Criterion A and/or Criterion B below, provided that these abnormalities are of unknown or unconfirmed etiology and the patient has not previously had a normal LAL enzyme activity result, has not received treatment with sebelipase alfa (Kanuma), and has no evidence of neurological dysfunction within the past year. (Note: Female patients who are of childbearing potential or are pregnant may participate in this study.) Receives: Other: There is no intervention in the study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Eligibility Criteria for LAL-D diagnosed patients
Eligibility criteria will be summarized descriptively by LAL-D diagnostic status. Statistical differences in the distributions of eligibility criteria by diagnostic status will be assessed with t test for continuous variables (e.g., lab values) and chi-square test/Fishers exact test for categorical variables (e.g., presence of hepatomegaly). Among those with confirmed LAL-D, demographic data (e.g., age, sex, race/ethnicity, and country of origin) and clinical data (i.e., laboratory values, imaging and biopsy data, medications, physical exam findings, medical history, and family medical history) will be summarized as appropriate
Measured: Confirmed LAL-D diagnosed patients, for a period extending up to a maximum of 6 months after the date of diagnosis
Secondary outcomes (1)
LIPA gene mutations for LAL-D diagnosed patients
Among patients with a confirmed diagnosis of LAL-D, specific LIPA gene mutations and type of mutation will be summarized. Listings will present patient characteristics, including signs, symptoms, and laboratory values by mutation. Patient (e.g., age) and clinical features (e.g., laboratory values, signs, and symptoms) will be summarized by genetic mutation to assess associations between phenotypes and genetic variants.
Measured: Confirmed LAL-D diagnosed patients, for a period extending up to a maximum of 6 months after the date of diagnosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Oct 2016 (estimated)
- Study startNov 2016
- Primary completion5 Jun 2017
- Study completion5 Jun 2017
Why it stopped: Study scope re-assessed.
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
- Other
- Time perspective
- Other
- Enrolment
- 22 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
- NCT02926872
- Sponsor's protocol ID
- ALX-LAL-502
- Status last verified
- Jun 2017
- First submitted
- 4 Oct 2016
- Last updated
- 16 Jun 2017
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jun 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- SCREENING FOR LYSOSOMAL ACID LIPASE DEFICIENCY AS THE UNDERLYING SOURCE OF HEPATIC INJURY IN PEDIATRIC PATIENTS WITH EVIDENCE OF ABNORMAL CLINICAL OR BIOCHEMICAL TESTS (DETECT)
- ClinicalTrials.gov ID
- NCT02926872
- Acronym / sponsor ID
- ALX-LAL-502
- Conditions
- Lysosomal Acid Lipase Deficiency
- Keywords
- Screening, Hepatic Injury, Pediatric Patients
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Study scope re-assessed.
- Enrolment
- 22 participants (actual)
- Lead sponsor
- Alexion Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- Nov 2016
- Primary completion
- 5 Jun 2017 (actual)
- Study completion
- 5 Jun 2017 (actual)
- First posted
- 6 Oct 2016 (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 primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients should be tested for LAL-D.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Entire Study Population | – | Other: There is no intervention in the studyMale or female patients who are between 2 and 16 years of age (inclusive) will be eligible for the study if they meet all components of Criterion A and/or Criterion B below, provided that these abnormalities are of unknown or unconfirmed etiology and the patient has not previously had a normal LAL enzyme activity result, has not received treatment with sebelipase alfa (Kanuma), and has no evidence of neurological dysfunction within the past year. (Note: Female patients who are of childbearing potential or are pregnant may participate in this study.) |
Who may qualify
- Ages
- 2 to 16 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Male or female patients who are between 2 and 16 years of age (inclusive) will be eligible for the study if they meet all components of Criterion A and/or Criterion B below, provided that these abnormalities are of unknown or unconfirmed etiology and the patient has not previously had a normal LAL enzyme activity result, has not received treatment with sebelipase alfa (Kanuma), and has no evidence of neurological dysfunction within the past year. (Note: Female patients who are of childbearing potential or are pregnant may participate in this study
Key inclusion criteria (9 listed)
- Male or female patient is ≥ 2 to ≤ 16 years of age at the date of informed consent. (Note: Female patients who are of childbearing potential or are pregnant may participate in this study.)
- Patient or patient's parent or legal guardian (if applicable) consents to participation in the study. 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 meets all components of Criterion A and/or Criterion B below.
- Criterion A: Patient has dyslipidemia, defined as having at least one of the following lipid abnormalities based on a local laboratory result obtained within 3 months prior to the date of informed consent (or at the screening visit, as applicable):
- LDL-c ≥ 130 mg/dL HDL c ≤ 40 mg/dL (male patients) or ≤ 50 mg/dL (female patients) Note: For patients receiving a lipid-lowering medication (LLM), the patient must have been on a stable dose of the LLM for at least 4 weeks prior to the serum lipid result.
Key exclusion criteria (5 listed)
- Patient has a confirmed cause of liver disease other than LAL-D.
- Patient has genetically confirmed heterozygous familial hypercholesteremia or other secondary causes of hypercholesterolemia.
- Patient has current evidence of neurological dysfunction and/or a history of neurological dysfunction within one year prior to the date of informed consent.
- Patient has been previously screened for LAL-D and found to have normal enzyme activity based on the reference range of the laboratory performing the assay.
- Patient is currently receiving treatment with sebelipase alfa (Kanuma) or has previously participated in a clinical study with sebelipase alfa (Kanuma).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| There is no intervention in the study | Other | Entire Study Population |
Primary outcome
Eligibility Criteria for LAL-D diagnosed patients
Time frame: Confirmed LAL-D diagnosed patients, for a period extending up to a maximum of 6 months after the date of diagnosis
Eligibility criteria will be summarized descriptively by LAL-D diagnostic status. Statistical differences in the distributions of eligibility criteria by diagnostic status will be assessed with t test for continuous variables (e.g., lab values) and chi-square test/Fishers exact test for categorical variables (e.g., presence of hepatomegaly). Among those with confirmed LAL-D, demographic data (e.g., age, sex, race/ethnicity, and country of origin) and clinical data (i.e., laboratory values, imaging and biopsy data, medications, physical exam findings, medical history, and family medical history) will be summarized as appropriate
1 secondary outcome
LIPA gene mutations for LAL-D diagnosed patients
Time frame: Confirmed LAL-D diagnosed patients, for a period extending up to a maximum of 6 months after the date of diagnosis
Results and safety
The study was stopped early (reason given: Study scope re-assessed.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jun 2017.
- Individual participant dataSharing planned: No
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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.
2 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 2 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 9 inclusion and 5 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 16 Jun 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 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 (reason given: Study scope re-assessed.). 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?
Eligibility Criteria for LAL-D diagnosed patients (time frame: Confirmed LAL-D diagnosed patients, for a period extending up to a maximum of 6 months after the date of diagnosis). 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 16 Jun 2017.