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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
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