Wolman DiseaseNCT01884220
Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
An observational study of Wolman Disease and Cholesterol Ester Storage Disease, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Wolman Disease, Cholesterol Ester Storage Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2010to May 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients will be recruited initially from the PIs patient population. Other physicians may refer their patients to this study for inclusion.
Who may be able to join
- 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
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
About this study
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
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".
Read the 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.
- Conditions
- Wolman Disease, Cholesterol Ester Storage Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- Being tested
- There are no interventions in this study.
- Keywords
- Wolman Disease, Cholesteryl Ester Storage Disease, Enzyme deficiency, Natural History, Medical Records Review
- Medical subject headings
- Wolman Disease, Cholesterol Ester Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
There are no interventions in this study.Other
| Study group | Role | What they receive |
|---|---|---|
| Patients with Disease | Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency. Receives: Other: There are no interventions in this study. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Secondary outcomes (7)
Change in Organ Measurements using X-Ray Imaging
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using Computerized Tomography
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using Magnetic Resonance Imaging
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Liver Function using Standardized Laboratory Liver Function Assessment
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Pulmonary Function using Standardized Pulmonary Function Assessment
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Subjects's Overall Health Status using Clinical Exam
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Change in the Subject's Overall Health Status using Verbal Report
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.
Measured: Baseline, Year 1, Year 2, Year 3, Year 4
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2013 (estimated)
- Study startNov 2010
- Primary completionMay 2014
- Study completionMay 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wolman DiseaseStudies of the same condition, open and under way.
- More trials run by Children's Hospital Medical Center, CincinnatiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Sponsor type
- University, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Responsible party
- Sponsor
- Investigators
- Gregory A Grabowski, MD, Principal investigator, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01884220
- Sponsor's protocol ID
- LDN6706
- Other IDs
- U54NS065768
- Status last verified
- Jul 2015
- First submitted
- 13 Mar 2013
- Last updated
- 28 Jul 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT01884220
- Acronym / sponsor ID
- LDN6706
- 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
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Children's Hospital Medical Center, CincinnatiUniversity, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- Nov 2010
- Primary completion
- May 2014 (actual)
- Study completion
- May 2014 (actual)
- First posted
- 21 Jun 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Disease | – | Other: There are no interventions in this study.Patients with Wolman disease (WD), Cholesteryl Ester Storage Disease (CESD), or Lysosomal acid lipase (LAL) deficiency. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be recruited initially from the PIs patient population. Other physicians may refer their patients to this study for inclusion.
Key inclusion criteria (6 listed)
- male or female of any age;
- a clinical diagnosis of WD or CESD as defined by:
- written informed consent
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| There are no interventions in this study. | Other | Patients with Disease |
Primary outcome
Change in Organ Measurements using Ultrasound Imaging
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
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.
7 secondary outcomes
Change in Organ Measurements using X-Ray Imaging
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using Computerized Tomography
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Organ Measurements using Magnetic Resonance Imaging
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Liver Function using Standardized Laboratory Liver Function Assessment
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Pulmonary Function using Standardized Pulmonary Function Assessment
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in Subjects's Overall Health Status using Clinical Exam
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Change in the Subject's Overall Health Status using Verbal Report
Time frame: Baseline, Year 1, Year 2, Year 3, Year 4
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2015.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Gregory A Grabowski, MD principal investigator
Children's Hospital Medical Center, Cincinnati
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Wolman Disease and Cholesterol Ester Storage Disease, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Jul 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Organ Measurements using Ultrasound Imaging (time frame: Baseline, Year 1, Year 2, Year 3, Year 4). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jul 2015.