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Atransferrinemia is a very rare disorder, which is caused by a deficiency of the protein transferrin. No regular treatment is available for these patients. The objective of this study is to investigate the pharmacokinetics, efficacy and safety of Apotransferrin replacement therapy in atransferrinemia patients.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| human apotransferrin | Experimental | intravenous apotransferrin every 4-8 weeks |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Human apotransferrin | Drug | intravenous infusion |
|
| Measure | Description | Time Frame |
|---|---|---|
| Hemoglobin | Hemoglobin within normal range | 15 year |
| pharmacokinetics of transferrin | serum transferrin levels measured on several time points before and after infusion | first infusion and year 3 |
| iron overload in organs | Elimination of iron overload (liver, heart) | 15 years |
| Measure | Description | Time Frame |
|---|---|---|
| Iron overload | Serum Ferritin within normal values | 15 years |
| Hematocrit | Hematocrit within normal values | 15 years |
| Measure | Description | Time Frame |
|---|---|---|
| transferrin levels | Effective transferrin levels | 15 years |
| adverse drug reactions | number of adverse drug reactions | 15 years |
Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Cristina R Diaz de Heredia Rubio, PhD, MD | Vall d'Hebron, Spain | Principal Investigator |
| Katja Moser, MD | klinikum Aschaffenburg, Germany | Principal Investigator |
| Raffaella Mariani, MD, PhD | AO San Gerardo Monza, Italy | Principal Investigator |
| Alberto Piperno, MD, PhD | AO San Gerardo Monza, Italy | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Klinikum Aschaffenburg | Aschaffenburg | Germany | ||||
| AO San Gerardo |
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| ID | Term |
|---|---|
| C538259 | Congenital atransferrinemia |
| D000740 | Anemia |
| D019190 | Iron Overload |
| ID | Term |
|---|---|
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D019189 | Iron Metabolism Disorders |
| D008659 | Metabolic Diseases |
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| Erythrocytes | Erythrocytes within normal values | 15 years |
| Monza |
| 20900 |
| Italy |
| Vall d'Hebron Hospital | Barcelona | Spain |
| D009750 | Nutritional and Metabolic Diseases |