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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).
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Clinical History Summary | Characterize patient demographic data and clinical course of disease using descriptive statistics. | Expected average of 15 years |
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Inclusion Criteria:
Exclusion Criteria:
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Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Stanford University | Stanford | California | 94305 | United States | ||
| Children's Memorial Hospital |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 28320214 | Derived | 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. | |
| 26252914 | Derived | Burton 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. |
| Label | URL |
|---|---|
| Alexion Pharmaceuticals | View source |
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| 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 |
| ID | Term |
|---|---|
| D015217 | Cholesterol Ester Storage Disease |
| D015223 | Wolman Disease |
| D016464 | Lysosomal Storage Diseases |
| ID | Term |
|---|---|
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D007232 | Infant, Newborn, Diseases |
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