Clinical Trial: Screening for Lysosomal Acid Lipase Deficiency

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

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 (DE

Brief 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.

Detailed Summary:
Sponsor: Alexion Pharmaceuticals

Current 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


Original Primary Outcome: Same as current

Current 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 ]

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.


Original Secondary Outcome: Same as current

Information By: Alexion Pharmaceuticals

Dates:
Date Received: October 4, 2016
Date Started: November 2016
Date Completion: June 2019
Last Updated: April 3, 2017
Last Verified: April 2017