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

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