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

Cincinnati Children's Hospital Medical Center

Status: Completed

Conditions: Acid Cholesteryl Ester Hydrolase Deficiency, Type 2; Cholesterol Ester Storage Disease; Wolman Disease

Treatments: Other: There are no interventions in this study.

Study type: Observational

Funder types: Other; NETWORK; NIH

Identifiers

NCT01884220

U54NS065768 (U.S. NIH Grant/Contract)

LDN6706

Details and patient eligibility

About

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".

Full 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.

Enrollment: 4 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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

Trial design

4 participants in 1 patient group

Patients with Disease

Description:

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

Treatment:

Other: There are no interventions in this study.