Clinical trial NCT01884220: Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Wolman Disease
Cholesterol Ester Storage Disease
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Keywords: Wolman Disease
Cholesteryl Ester Storage Disease
Enzyme deficiency
Natural History
Medical Records Review
Lead sponsor: Children's Hospital Medical Center, Cincinnati
Sponsor class: OTHER
Collaborators: name: Rare Diseases Clinical Research Network
name: National Center for Advancing Translational Sciences (NCATS)
name: National Institute of Neurological Disorders and Stroke (NINDS)
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2013-06-21
Enrollment: 4
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
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.

Brief 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".

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 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

Primary outcomes:
measure: Change in Organ Measurements using Ultrasound Imaging
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
Secondary outcomes:
measure: Change in Organ Measurements using X-Ray Imaging
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
measure: Change in Organ Measurements using Computerized Tomography
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
measure: Change in Organ Measurements using Magnetic Resonance Imaging
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
measure: Change in Liver Function using Standardized Laboratory Liver Function Assessment
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
measure: Change in Pulmonary Function using Standardized Pulmonary Function Assessment
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
measure: Change in Subjects's Overall Health Status using Clinical Exam
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
measure: Change in the Subject's Overall Health Status using Verbal Report
timeFrame: Baseline, Year 1, Year 2, Year 3, Year 4
Other outcomes:
Locations:
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
Study officials:
affiliation: Children's Hospital Medical Center, Cincinnati
name: Gregory A Grabowski, MD
role: PRINCIPAL_INVESTIGATOR
References: