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

Sponsor

Children's Hospital Medical Center, Cincinnati (Other)

Overall Status

Completed

CT.gov ID

NCT01884220

Collaborator

Rare Diseases Clinical Research Network (Other), National Center for Advancing Translational Science (NCATS) (NIH), National Institute of Neurological Disorders and Stroke (NINDS) (NIH), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (NIH)

Enrollment

Location

Duration (Months)

0.1

Patients Per Site Per Month

Study Details

Study Description

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".

Condition or Disease	Intervention/Treatment	Phase
Wolman Disease Cholesterol Ester Storage Disease Acid Cholesteryl Ester Hydrolase Deficiency, Type 2	Other: There are no interventions in this study.

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 Design

Study Type:

Observational

Actual Enrollment :

4 participants

Observational Model:

Cohort

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

Study Start Date :

Nov 1, 2010

Actual Primary Completion Date :

May 1, 2014

Actual Study Completion Date :

May 1, 2014

Arms and Interventions

Arm	Intervention/Treatment
Patients with Disease Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency.	Other: There are no interventions in this study.

Arm

Intervention/Treatment

Patients with Disease

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

Other: There are no interventions in this study.

Outcome Measures

Primary Outcome Measures

Change in Organ Measurements using Ultrasound Imaging [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using ultrasound imaging. Measurement using ultrasound imaging will only be completed if clinically indicated during clinical-care patient visits.

Secondary Outcome Measures

Change in Organ Measurements using X-Ray Imaging [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using X-rays. Measurement using X-ray imaging will only be completed if clinically indicated during clinical-care patient visits.
Change in Organ Measurements using Computerized Tomography [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using Computerized Tomography. Measurement using Computerized Tomography imaging will only be completed if clinically indicated during clinical-care patient visits.
Change in Organ Measurements using Magnetic Resonance Imaging [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using Magnetic Resonance Imaging. Measurement using Magnetic Resonance Imaging will only be completed if clinically indicated during clinical-care patient visits.
Change in Liver Function using Standardized Laboratory Liver Function Assessment [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the liver will be performed using standardized laboratory liver function assessments during clinical-care visits.
Change in Pulmonary Function using Standardized Pulmonary Function Assessment [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the lungs will be performed using standardized pulmonary function assessment during clinical care visits. Measurement using standardized pulmonary function assessment will only be completed if clinically indicated during clinical-care patient visits.
Change in Subjects's Overall Health Status using Clinical Exam [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the subject's physical health status will be performed using clinical physical exams during clinical-care visits.
Change in the Subject's Overall Health Status using Verbal Report [Baseline, Year 1, Year 2, Year 3, Year 4]
Measurement of the effect over time of LAL deficiency on the subject's overall health status will be performed using patient's or parents' verbal report during clinical-care visits.