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

Wolman Disease Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01884220
• Other study ID #: LDN6706
• Secondary ID: U54NS065768
• Status: Completed
• Phase: N/A
• First received: March 13, 2013
• Last updated: July 27, 2015
• Start date: November 2010
• Est. completion date: May 2014

Study information

• Verified date: July 2015
• Source: Children's Hospital Medical Center, Cincinnati
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal GovernmentUnited States: Institutional Review Board
• Study type: Observational

Clinical Trial 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".

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4
• Est. completion date: May 2014
• Est. primary completion date: May 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Observational Model: Cohort

Related Conditions & MeSH terms

• Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
• Cholesterol Ester Storage Disease
• Wolman Disease

Intervention

Other:
• There are no interventions in this study.

Locations

Country	Name	City	State
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio

Sponsors (5)

Lead Sponsor	Collaborator
Children's Hospital Medical Center, Cincinnati	National Center for Advancing Translational Science (NCATS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Neurological Disorders and Stroke (NINDS), Rare Diseases Clinical Research Network

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in Organ Measurements using Ultrasound Imaging	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No
Secondary	Change in Organ Measurements using X-Ray Imaging	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No
Secondary	Change in Organ Measurements using Computerized Tomography	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No
Secondary	Change in Organ Measurements using Magnetic Resonance Imaging	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No
Secondary	Change in Liver Function using Standardized Laboratory Liver Function Assessment	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No
Secondary	Change in Pulmonary Function using Standardized Pulmonary Function Assessment	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No
Secondary	Change in Subjects's Overall Health Status using Clinical Exam	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No
Secondary	Change in the Subject's Overall Health Status using Verbal Report	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.	Baseline, Year 1, Year 2, Year 3, Year 4	No

External Links

•   Rare Diseases Clinical Research Network