Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up

Brief Title

Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up

Official Title

A Historical Chart Review and Longitudinal Follow-Up of Identified Patients With Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency

Brief Summary

      The purpose of this study are: to characterize and understand the natural history of disease
      progression in WD and CESD, and to provide historical controls for WD and CESD for developing
      clinical treatment trials. The hypothesis is that the variability and clinical progression in
      WD and CESD is large and represents a continuum of severities from a lethal infantile to near
      normal adults with only "fatty livers".
    

Detailed Description

      This is a single institution historical cohort study of patients with Wolman (WD) or
      Cholesteryl Ester Storage Disease (CESD). Retrospective data will be collected and abstracted
      from the medical records of both living and deceased patients. Additionally prospective data
      from living patients will be collected and abstracted annually until the end of the study.
      Literature sources will be used as secondary source data and will be screened to
      minimize/eliminate duplicative reports.
    


Study Type

Observational


Primary Outcome

Change in Organ Measurements using Ultrasound Imaging

Secondary Outcome

 Change in Organ Measurements using X-Ray Imaging

Condition

Wolman Disease

Intervention

There are no interventions in this study.

Study Arms / Comparison Groups

 Patients with Disease
Description:  Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) 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


Recruitment Status

Other

Estimated Enrollment

4

Start Date

November 2010

Completion Date

May 2014

Primary Completion Date

May 2014

Eligibility Criteria

        Inclusion Criteria:

          -  male or female of any age;

          -  a clinical diagnosis of WD or CESD as defined by:

               -  documented LAL enzyme deficiency OR

               -  LAL gene mutations OR

               -  a clinical course and tissue biopsy consistent with CESD or WD;

          -  written informed consent
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Gregory A Grabowski, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01884220

Organization ID

LDN6706

Secondary IDs

U54NS065768

Responsible Party

Sponsor

Study Sponsor

Children's Hospital Medical Center, Cincinnati

Collaborators

 Rare Diseases Clinical Research Network

Study Sponsor

Gregory A Grabowski, MD, Principal Investigator, Children's Hospital Medical Center, Cincinnati


Verification Date

July 2015