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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
5
intravenous infusion
Klinikum Aschaffenburg
Aschaffenburg, Germany
AO San Gerardo
Monza, Italy
Vall d'Hebron Hospital
Barcelona, Spain
Hemoglobin
Hemoglobin within normal range
Time frame: 15 year
pharmacokinetics of transferrin
serum transferrin levels measured on several time points before and after infusion
Time frame: first infusion and year 3
iron overload in organs
Elimination of iron overload (liver, heart)
Time frame: 15 years
Iron overload
Serum Ferritin within normal values
Time frame: 15 years
Hematocrit
Hematocrit within normal values
Time frame: 15 years
Erythrocytes
Erythrocytes within normal values
Time frame: 15 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.