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

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by Children's Hospital Medical Center, Cincinnati
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 15, 2013
Last verified: July 2013

March 13, 2013
July 15, 2013
November 2010
December 2015   (final data collection date for primary outcome measure)
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.
Same as current
Complete list of historical versions of study NCT01884220 on ClinicalTrials.gov Archive Site
  • 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.
Same as current
Not Provided
Not Provided
 
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".

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.

Observational
Observational Model: Cohort
Not Provided
Retention:   Samples With DNA
Description:

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.

Non-Probability Sample

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

  • Wolman Disease (WD)
  • Cholesteryl Ester Storage Disease (CESD)
  • Lysosomal Acid Lipase (LAL) Deficiency
Other: There are no interventions in this study.
Patients with Disease
Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency.
Intervention: Other: There are no interventions in this study.
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
50
December 2016
December 2015   (final data collection date for primary outcome measure)

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
Both
Not Provided
No
Contact: Laurie A Bailey, MS 513-636-4507 laurie.bailey@cchmc.org
United States
 
NCT01884220
LDN6706, U54NS065768
No
Children's Hospital Medical Center, Cincinnati
Children's Hospital Medical Center, Cincinnati
  • Rare Diseases Clinical Research Network
  • National Center for Advancing Translational Science (NCATS)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Gregory A Grabowski, MD Children's Hospital Medical Center, Cincinnati
Children's Hospital Medical Center, Cincinnati
July 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP