Clinical Trials Logo

Clinical Trial 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".


Clinical Trial 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. ;


Study Design

Observational Model: Cohort


Related Conditions & MeSH terms

  • Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
  • Cholesterol Ester Storage Disease
  • Wolman Disease

NCT number NCT01884220
Study type Observational
Source Children's Hospital Medical Center, Cincinnati
Contact
Status Completed
Phase N/A
Start date November 2010
Completion date May 2014

See also
  Status Clinical Trial Phase
Completed NCT00383448 - HSCT for High Risk Inherited Inborn Errors Phase 2
Completed NCT04652713 - Breakfast for Young Women N/A
Terminated NCT01473875 - Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Phase 2/Phase 3
Completed NCT01358370 - A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype N/A
Completed NCT01371825 - Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Phase 2/Phase 3
Recruiting NCT05619900 - Registry of Patients Diagnosed With Lysosomal Storage Diseases
Not yet recruiting NCT04792671 - Prevalence and Risk Factors of Women Mental Health Disorders
Recruiting NCT04532047 - In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases Phase 1
Completed NCT00176904 - Stem Cell Transplant for Inborn Errors of Metabolism Phase 2/Phase 3
Recruiting NCT01633489 - Lysosomal Acid Lipase (LAL) Deficiency Registry
Active, not recruiting NCT00005900 - Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation N/A
Completed NCT01586455 - Human Placental-Derived Stem Cell Transplantation Phase 1
Recruiting NCT06287658 - The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence N/A