Cholesterol Ester Storage Disease(CESD)NCT01528917
An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
An observational study of Cholesterol Ester Storage Disease(CESD) and Lysosomal Acid Lipase Deficiency, run by Alexion Pharmaceuticals, Inc. at 16 sites in 8 countries.
Trial summary
This is a Natural History study to characterize key aspects of the clinical course of late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD). Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency
- How many people
- 49 participants
- Where
- 16 sitesin 8 countries
- Study dates
- Jun 2011to May 2013
- 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 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).
Who may be able to join
- Patients with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD) who are 5 years of age or older and have required data points in their medical record
Who cannot join
- Required data points for inclusion are not available
Trial locations and contacts
16 sites in 8 countries.
16 sites in 8 countries
United States6 sites
Children's Memorial Hospital
Chicago, Illinois, 60614
University of Minnesota
Minneapolis, Minnesota, 55455
Morgan Stanley Children's Hospital of New York-Presbyterian
New York, New York, 10032
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Seattle Children's
Seattle, Washington, 98105
Stanford University
Stanford, California, 94305
United Kingdom3 sites
Birmingham Children's Hospital
Birmingham
Addenbrooke's Hospital
Cambridge
Salford Royal
Salford
About this study
Official title: An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
This is a Natural History study to characterize key aspects of the clinical course of late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD).
Read the detailed description
The objective of this study is to characterize key aspects of the clinical presentation, disease phenotype and progression of patients with late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD) including, but not limited to, age of presentation, onset of hepatomegaly, progression over time of liver function, and stability of lipid abnormalities.
- Keywords
- Lysosomal Storage Disease, Late Onset Lysosomal Acid Lipase (LAL) Deficiency, Acid cholesteryl ester hydrolase deficiency, type 2, Acid lipase disease, Cholesterol ester hydrolase deficiency, LAL Deficiency, LIPA Deficiency, Wolman disease
- Medical subject headings
- Cholesterol Ester Storage Disease, Wolman Disease, Lysosomal Storage Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical History Summary
Characterize patient demographic data and clinical course of disease using descriptive statistics.
Measured: Expected average of 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Feb 2012 (estimated)
- Study startJun 2011
- Primary completionJan 2013
- Study completionMay 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Cholesterol Ester Storage Disease(CESD)Studies of the same condition, open and under way.
- More trials run by Alexion Pharmaceuticals, Inc.The 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
- Time perspective
- Retrospective
- Enrolment
- 49 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01528917
- Sponsor's protocol ID
- LAL-2-NH01
- Status last verified
- Apr 2013
- First submitted
- 1 Feb 2012
- Last updated
- 20 Jul 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Burton BK, Silliman N, Marulkar S. Progression of liver disease in children and adults with lysosomal acid lipase deficiency. Curr Med Res Opin. 2017 Jul;33(7):1211-1214. doi: 10.1080/03007995.2017.1309371. Epub 2017 Apr 3.
PubMed 28320214Burton BK, Deegan PB, Enns GM, Guardamagna O, Horslen S, Hovingh GK, Lobritto SJ, Malinova V, McLin VA, Raiman J, Di Rocco M, Santra S, Sharma R, Sykut-Cegielska J, Whitley CB, Eckert S, Valayannopoulos V, Quinn AG. Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr. 2015 Dec;61(6):619-25. doi: 10.1097/MPG.0000000000000935.
PubMed 26252914
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
- ClinicalTrials.gov ID
- NCT01528917
- Acronym / sponsor ID
- LAL-2-NH01
- Keywords
- Lysosomal Storage Disease, Late Onset Lysosomal Acid Lipase (LAL) Deficiency, Acid cholesteryl ester hydrolase deficiency, type 2, Acid lipase disease, Cholesterol ester hydrolase deficiency, LAL Deficiency, LIPA Deficiency, Wolman disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 49 participants (actual)
- Lead sponsor
- Alexion Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- Jun 2011
- Primary completion
- Jan 2013 (actual)
- Study completion
- May 2013 (actual)
- First posted
- 8 Feb 2012 (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.
This is a Natural History study to characterize key aspects of the clinical course of late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD).
Detailed description
The objective of this study is to characterize key aspects of the clinical presentation, disease phenotype and progression of patients with late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD) including, but not limited to, age of presentation, onset of hepatomegaly, progression over time of liver function, and stability of lipid abnormalities.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).
Key inclusion criteria (1 listed)
- Patients with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD) who are 5 years of age or older and have required data points in their medical record
Key exclusion criteria (1 listed)
- Required data points for inclusion are not available
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical History Summary
Time frame: Expected average of 15 years
Characterize patient demographic data and clinical course of disease using descriptive statistics.
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 20 Jul 2016.
- Derived from this study: PubMed 28320214Burton BK, Silliman N, Marulkar S. Progression of liver disease in children and adults with lysosomal acid lipase deficiency. Curr Med Res Opin. 2017 Jul;33(7):1211-1214. doi: 10.1080/03007995.2017.1309371. Epub 2017 Apr 3.
- Derived from this study: PubMed 26252914Burton BK, Deegan PB, Enns GM, Guardamagna O, Horslen S, Hovingh GK, Lobritto SJ, Malinova V, McLin VA, Raiman J, Di Rocco M, Santra S, Sharma R, Sykut-Cegielska J, Whitley CB, Eckert S, Valayannopoulos V, Quinn AG. Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr. 2015 Dec;61(6):619-25. doi: 10.1097/MPG.0000000000000935.
- Alexion PharmaceuticalsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
16 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cholesterol Ester Storage Disease(CESD) and Lysosomal Acid Lipase Deficiency, run by Alexion Pharmaceuticals, Inc. at 16 sites in 8 countries.
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 1 inclusion and 1 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 20 Jul 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States, United Kingdom, Italy, Canada, Czechia and 3 more countries. 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?
Clinical History Summary (time frame: Expected average of 15 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01528917, which also lists 2 linked publications.
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 20 Jul 2016.