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

NCT01884220 | Completed

• 2 other identifiers: LDN6706U54NS065768
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

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".

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (7)

• Change in Organ Measurements using X-Ray Imaging

  Baseline, Year 1, Year 2, Year 3, Year 4

• Change in Organ Measurements using Computerized Tomography

  Baseline, Year 1, Year 2, Year 3, Year 4

• Change in Organ Measurements using Magnetic Resonance Imaging

  Baseline, Year 1, Year 2, Year 3, Year 4

• Change in Liver Function using Standardized Laboratory Liver Function Assessment

  Baseline, Year 1, Year 2, Year 3, Year 4

• Change in Pulmonary Function using Standardized Pulmonary Function Assessment

  Baseline, Year 1, Year 2, Year 3, Year 4

Study Arms (1)

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.

Interventions

There are no interventions in this study. OTHER

Patients with Disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead
• Rare Diseases Clinical Research Network: collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

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.

MeSH Terms

Conditions

Wolman Disease; Cholesterol Ester Storage Disease

Condition Hierarchy (Ancestors)

Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Infant, Newborn, Diseases; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Gregory A Grabowski, MD

  Children's Hospital Medical Center, Cincinnati

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 13, 2013
• First Posted: June 21, 2013
• Study Start: November 1, 2010
• Primary Completion: May 1, 2014
• Study Completion: May 1, 2014
• Last Updated: July 28, 2015

Record last verified: 2015-07

Locations

US (1)