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

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".

Study Overview

• Status: Completed
• Conditions: Wolman Disease; Cholesterol Ester Storage Disease; Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
• Intervention / Treatment: 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 Type: Observational
• Enrollment (Actual): 4

Contacts and Locations

Study Locations

• United States
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients will be recruited initially from the PIs patient population. Other physicians may refer their patients to this study for inclusion.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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
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
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
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
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
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

Collaborators and Investigators

• Sponsor: Children's Hospital Medical Center, Cincinnati
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institute of Neurological Disorders and Stroke (NINDS); Rare Diseases Clinical Research Network; National Center for Advancing Translational Sciences (NCATS)
• Investigators: Principal Investigator: Gregory A Grabowski, MD, Children's Hospital Medical Center, Cincinnati

Study record dates

Study Major Dates

• Study Start: November 1, 2010
• Primary Completion (Actual): May 1, 2014
• Study Completion (Actual): May 1, 2014

Study Registration Dates

• First Submitted: March 13, 2013
• First Submitted That Met QC Criteria: June 19, 2013
• First Posted (Estimate): June 21, 2013

Study Record Updates

• Last Update Posted (Estimate): July 28, 2015
• Last Update Submitted That Met QC Criteria: July 27, 2015
• Last Verified: July 1, 2015

More Information

Terms related to this study

• Keywords: Natural History; Wolman Disease; Cholesteryl Ester Storage Disease; Enzyme deficiency; Medical Records Review
• Additional Relevant MeSH Terms: Infant, Newborn, Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Wolman Disease; Cholesterol Ester Storage Disease
• Other Study ID Numbers: LDN6706; U54NS065768 (U.S. NIH Grant/Contract)