Screening for Lysosomal Acid Lipase Deficiency

Stopped early

Conditions studied: Lysosomal Acid Lipase Deficiency

In brief

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.

Key facts

Study ID

NCT02926872

Run by

Alexion Pharmaceuticals, Inc.

People needed

22

Starts

2016-11-01

Expected to finish

2017-06-05

Last updated by the study team

2017-06-16

Who can join

Age: 2 and older, up to 16. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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
• 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.)

You may not qualify if…

• 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).

Where it is running

• Children's Healthcare of Atlanta — Atlanta, Georgia, United States
• Texas Children's Hospital, Baylor College of Medicine — Houston, Texas, United States

Full record on ClinicalTrials.gov

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