An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
This study is ongoing, but not recruiting participants.
Sponsor:
Synageva BioPharma Corp.
Information provided by (Responsible Party):
Synageva BioPharma Corp.
ClinicalTrials.gov Identifier:
NCT01528917
First received: February 1, 2012
Last updated: April 30, 2013
Last verified: April 2013
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Purpose
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).
| Condition |
|---|
|
Cholesterol Ester Storage Disease(CESD) Lysosomal Acid Lipase Deficiency |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Retrospective |
| Official Title: | An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype |
Resource links provided by NLM:
Genetics Home Reference related topics:
Chanarin-Dorfman syndrome
cholesteryl ester storage disease
Farber lipogranulomatosis
Schindler disease
Wolman disease
MedlinePlus related topics:
Cholesterol
U.S. FDA Resources
Further study details as provided by Synageva BioPharma Corp.:
Primary Outcome Measures:
- Clinical History Summary [ Time Frame: Expected average of 15 years ] [ Designated as safety issue: No ]Characterize patient demographic data and clinical course of disease using descriptive statistics.
| Estimated Enrollment: | 60 |
| Study Start Date: | June 2011 |
| Estimated Study Completion Date: | May 2013 |
| Primary Completion Date: | January 2013 (Final data collection date for primary outcome measure) |
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.
Eligibility| Ages Eligible for Study: | 5 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).
Criteria
Inclusion Criteria:
- 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
Exclusion Criteria:
- Required data points for inclusion are not available
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01528917
Locations
| United States, California | |
| Stanford University | |
| Stanford, California, United States, 94305 | |
| United States, Illinois | |
| Children's Memorial Hospital | |
| Chicago, Illinois, United States, 60614 | |
| United States, Minnesota | |
| University of Minnesota | |
| Minneapolis, Minnesota, United States, 55455 | |
| United States, New York | |
| Morgan Stanley Children's Hospital of New York-Presbyterian | |
| New York, New York, United States, 10032 | |
| United States, Pennsylvania | |
| Children's Hosptial of Pitttsburgh | |
| Pittsburgh, Pennsylvania, United States, 15224 | |
| United States, Washington | |
| Seattle Children's | |
| Seattle, Washington, United States, 98105 | |
| Canada | |
| Hospital for Sick Kids | |
| Toronto, Canada | |
| Czech Republic | |
| 1st Faculty of Medicine Charles University | |
| Prague, Czech Republic | |
| France | |
| Hôpital Necker-Enfants Malades | |
| Paris, France | |
| Italy | |
| Gaslini Institute | |
| Genoa, Italy | |
| Regina Margherita Hospital | |
| Turin, Italy | |
| Poland | |
| Children's Memorial Health Institute | |
| Warsaw, Poland | |
| Switzerland | |
| Hopitaux Universitares De Geneve | |
| Geneve, Switzerland | |
| United Kingdom | |
| Birmingham Children's Hospital | |
| Birmingham, United Kingdom | |
| Addenbrooke's Hospital | |
| Cambridge, United Kingdom | |
| Salford Royal | |
| Salford, United Kingdom | |
Sponsors and Collaborators
Synageva BioPharma Corp.
More Information
Additional Information:
No publications provided
| Responsible Party: | Synageva BioPharma Corp. |
| ClinicalTrials.gov Identifier: | NCT01528917 History of Changes |
| Other Study ID Numbers: | LAL-2-NH01 |
| Study First Received: | February 1, 2012 |
| Last Updated: | April 30, 2013 |
| Health Authority: | United States: Institutional Review Board United Kingdom: Medicines and Healthcare Products Regulatory Agency Canada: Health Canada France: Conseil National de l'Ordre des Médecins Czech Republic: State Institute for Drug Control Italy: National Bioethics Committee Poland: National Institute of Medicines |
Keywords provided by Synageva BioPharma Corp.:
|
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 |
Additional relevant MeSH terms:
|
Cholesterol Ester Storage Disease Wolman Disease Metabolic Diseases Lipidoses Lipid Metabolism, Inborn Errors |
Metabolism, Inborn Errors Genetic Diseases, Inborn Lysosomal Storage Diseases Lipid Metabolism Disorders Infant, Newborn, Diseases |
ClinicalTrials.gov processed this record on May 22, 2013