Brief Title
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
Official Title
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
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.
Study Type
Observational
Primary Outcome
Time to Death
Condition
Lysosomal Acid Lipase Deficiency
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
40
Start Date
November 2010
Completion Date
March 2013
Primary Completion Date
January 2013
Eligibility Criteria
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
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
No
Contacts
, ,
Location Countries
Canada
Location Countries
Canada
Administrative Informations
NCT ID
NCT01358370
Organization ID
LAL-1-NH01
Responsible Party
Sponsor
Study Sponsor
Alexion Pharmaceuticals
Study Sponsor
, ,
Verification Date
June 2016