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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

4 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-11-30

Study Completion Date

2014-05-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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".

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

NCT01528917

Cholesterol Ester Storage Disease(CESD) Lysosomal Acid Lipase Deficiency

COMPLETED

National Lysosomal Acid Lipase Deficiency Study

NCT02372513

Cholesteryl Ester Storage Disease

COMPLETED

Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency

NCT01488097

Cholesterol Ester Storage Disease (CESD) Lysosomal Acid Lipase Deficiency LAL-Deficiency

COMPLETED PHASE2

Lysosomal Acid Lipase (LAL) Deficiency Registry

NCT01633489

Lysosomal Acid Lipase Deficiency Cholesterol Ester Storage Disease Wolman Disease +4 more

RECRUITING

Hepatic Histopathology in Urea Cycle Disorders

NCT04908319

Citrullinemia 1 ARGI Deficiency ASL Deficiency +7 more

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients with Disease

Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency.

There are no interventions in this study.

Intervention Type OTHER

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

There are no interventions in this study.

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

Eligible Sex

ALL

Accepts Healthy Volunteers

No