A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

Alexion Pharmaceuticals

Status: Completed

Conditions: Lysosomal Acid Lipase Deficiency; Wolman Disease

Study type: Observational

Funder types: Industry

Identifiers

NCT01358370

LAL-1-NH01

Details and patient eligibility

About

This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.

Full description

The objective of this study is to characterize key aspects of the clinical course of LAL deficiency/Wolman phenotype in patients including, but not limited to, survival and growth parameters, to serve as a historical control to inform the evaluation and care of affected patients and to provide a reference for efficacy studies of enzyme replacement or other novel therapies.

Enrollment: 40 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later provided they have required data points in their medical records.

Exclusion criteria

• Patients will be excluded from the study if the required data points for inclusion are not available.
• Living LAL deficiency/Wolman phenotype patients will be excluded