Registry of Patients with Lysosomal Acid Lipase Deficiency

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This is an observational registry study intended to document the course of Lysosomal Acid Lipase Deficiency (LALD), in order to further understand the disease, its progression, which treatments are effective, and any related complications. As an observational study, no additional study visits - outside of subjects usual Metabolism clinic visit - are required. Eligible patients will be asked to sign an informed consent form prior to enrollment and will periodically have the option of completing questionnaires about their quality of life.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at MetabolismResearch [at] chop.edu or 267-426-1368.

ClinicalTrials.gov Identifier

Eligibility & Criteria

IRB #:
16-013413
Official Title:
An Observational Disease and Clinical Outcomes Registry of Patients with Lysosomal Acid Lipase (LAL) Deficiency [ALX-LALD-501]
Study Phase:
Not Applicable
Eligible Age Range:
0 - 99 Years
Gender:
All
Study Categories:

Visit Criteria

No visits outside of your usual clinic visits are required. Main study procedures include optional blood samples and medical record review.