Lysosomal Acid Lipase Deficiency, Wolman Disease
Conditions
Keywords
LAL Deficiency, LIPA, Wolman disease, Wolman Phenotype, Early Onset LAL Deficiency, Acid Lipase Deficiency
Brief summary
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
Detailed 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.
Interventions
None listed
Sponsors
Alexion Pharmaceuticals, Inc.
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Time to Death | Up to two years. | The time to death will be analyzed using Kaplan-Meier curves. Estimates (with exact 95% confidence interval \[CI\]) of the median and the lower and upper quartiles of time to death will be derived. |
Countries
Canada, France, Italy, United Kingdom, United States
Outcome results
None listed