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