An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
1 other identifier
observational
49
8 countries
16
Brief 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).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jun 2011
16 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 1, 2011
CompletedFirst Submitted
Initial submission to the registry
February 1, 2012
CompletedFirst Posted
Study publicly available on registry
February 8, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2013
CompletedStudy Completion
Last participant's last visit for all outcomes
May 1, 2013
CompletedJuly 20, 2016
April 1, 2013
1.6 years
February 1, 2012
July 19, 2016
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Clinical History Summary
Characterize patient demographic data and clinical course of disease using descriptive statistics.
Expected average of 15 years
Eligibility Criteria
Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).
You may qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (16)
Stanford University
Stanford, California, 94305, United States
Children's Memorial Hospital
Chicago, Illinois, 60614, United States
University of Minnesota
Minneapolis, Minnesota, 55455, United States
Morgan Stanley Children's Hospital of New York-Presbyterian
New York, New York, 10032, United States
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224, United States
Seattle Children's
Seattle, Washington, 98105, United States
Hospital for Sick Kids
Toronto, Canada
1st Faculty of Medicine Charles University
Prague, Czechia
Hôpital Necker-Enfants Malades
Paris, France
Gaslini Institute
Genoa, Italy
Regina Margherita Hospital
Turin, Italy
Children's Memorial Health Institute
Warsaw, Poland
Hopitaux Universitares De Geneve
Geneva, Switzerland
Birmingham Children's Hospital
Birmingham, United Kingdom
Addenbrooke's Hospital
Cambridge, United Kingdom
Salford Royal
Salford, United Kingdom
Related Publications (2)
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.
PMID: 28320214DERIVEDBurton 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.
PMID: 26252914DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
February 1, 2012
First Posted
February 8, 2012
Study Start
June 1, 2011
Primary Completion
January 1, 2013
Study Completion
May 1, 2013
Last Updated
July 20, 2016
Record last verified: 2013-04
Data Sharing
- IPD Sharing
- Will not share