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This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
The objective of this study is to characterize key aspects of the clinical course of LAL deficiency/Wolman phenotype in patients including, but not limited to, survival and growth parameters, to serve as a historical control to inform the evaluation and care of affected patients and to provide a reference for efficacy studies of enzyme replacement or other novel therapies.
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| Measure | Description | Time Frame |
|---|---|---|
| Time to Death | The time to death will be analyzed using Kaplan-Meier curves. Estimates (with exact 95% confidence interval [CI]) of the median and the lower and upper quartiles of time to death will be derived. | Up to two years. |
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Inclusion Criteria:
Exclusion Criteria:
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Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cedars-Siani Medical Center | Los Angeles | California | 90095-1752 | United States | ||
| Stanford University |
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| Palo Alto |
| California |
| 94305 |
| United States |
| University of Minnesota | Minneapolis | Minnesota | 55455 | United States |
| Columbia University | New York | New York | 10027 | United States |
| Ney York Presbyterian Hosptial | New York | New York | 10032 | United States |
| North Shore Long Island Jewish Medical Center | New York | New York | 11040 | United States |
| Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania | 15224 | United States |
| The Hospital for Sick Children | Toronto | Ontario | M5G 1X8 | Canada |
| Hospital Necker- Enfants Malades | Paris | 75015 | France |
| Instituto Giannina Gaslini- Ospedale Pediatrico IRCCS | Genova | Italy |
| University of Turin | Turin | 10124 | Italy |
| Birmingham Children's Hospital NHS Foundation Trust | Birmingham | B4 6NH | United Kingdom |
| Kings College London | London | WC2R 2LS | United Kingdom |
| Manchester Children's Hospital | Manchester | M13 9Wl | United Kingdom |
| ID | Term |
|---|---|
| D015223 | Wolman Disease |
| ID | Term |
|---|---|
| D015217 | Cholesterol Ester Storage Disease |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D007232 | Infant, Newborn, Diseases |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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