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

This study has been completed.
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
Children's Hospital Medical Center, Cincinnati
ClinicalTrials.gov Identifier:
NCT01884220
First received: March 13, 2013
Last updated: July 27, 2015
Last verified: July 2015
  Purpose

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

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Children's Hospital Medical Center, Cincinnati:

Primary Outcome Measures:
  • Change in Organ Measurements using Ultrasound Imaging [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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 [ Time Frame: Baseline, Year 1, Year 2, Year 3, Year 4 ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   None Retained

No biospecimens will be collected specifically for this study. However, participants are encouraged to send left over biopsy material to the study site for analysis at a later date.


Enrollment: 4
Study Start Date: November 2010
Study Completion Date: May 2014
Primary Completion Date: May 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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.

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01884220

Locations
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Sponsors and Collaborators
Children's Hospital Medical Center, Cincinnati
Rare Diseases Clinical Research Network
Investigators
Principal Investigator: Gregory A Grabowski, MD Children's Hospital Medical Center, Cincinnati
  More Information

Additional Information:
No publications provided

Responsible Party: Children's Hospital Medical Center, Cincinnati
ClinicalTrials.gov Identifier: NCT01884220     History of Changes
Other Study ID Numbers: LDN6706, U54NS065768
Study First Received: March 13, 2013
Last Updated: July 27, 2015
Health Authority: United States: Federal Government
United States: Institutional Review Board

Keywords provided by Children's Hospital Medical Center, Cincinnati:
Wolman Disease
Cholesteryl Ester Storage Disease
Enzyme deficiency
Natural History
Medical Records Review

Additional relevant MeSH terms:
Cholesterol Ester Storage Disease
Wolman Disease
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on July 27, 2015