Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
| Status: | Completed |
|---|---|
| Conditions: | Endocrine |
| Therapuetic Areas: | Endocrinology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | November 2010 |
| End Date: | May 2014 |
A Historical Chart Review and Longitudinal Follow-Up of Identified Patients With Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency
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".
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".
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.
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.
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
We found this trial at
1
site
3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229
Cincinnati, Ohio 45229
1-513-636-4200
Cincinnati Children's Hospital Medical Center Patients and families from across the region and around the...
Click here to add this to my saved trials
