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Completed

NCT Number: NCT01884220

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

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".

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Key information

Conditions

Wolman Disease Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 Cholesterol Ester Storage Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Infant, Newborn, Diseases Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

There are no interventions in this study.

Other

Primary outcomes

  1. Change in Organ Measurements using Ultrasound Imaging

    Time frame: 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 outcomes

  1. Change in Organ Measurements using X-Ray Imaging

    Time frame: 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.

  2. Change in Organ Measurements using Computerized Tomography

    Time frame: 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.

  3. Change in Organ Measurements using Magnetic Resonance Imaging

    Time frame: 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.

  4. Change in Liver Function using Standardized Laboratory Liver Function Assessment

    Time frame: 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.

  5. Change in Pulmonary Function using Standardized Pulmonary Function Assessment

    Time frame: 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.

  6. Change in Subjects's Overall Health Status using Clinical Exam

    Time frame: 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.

  7. Change in the Subject's Overall Health Status using Verbal Report

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Children's Hospital Medical Center, Cincinnati

Other

Collaborators

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

Registry information

Official study title

A Historical Chart Review and Longitudinal Follow-Up of Identified Patients With Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency

Important dates

Study start
2010
Primary completion
2014
Study completion
2014
First posted
Jun 21, 2013
Registry last updated
Jul 28, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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