Apotransferrin in Atransferrinemia

Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT01797055

Enrollment

Registered

2013-02-22

Start date

2010-12-01

Completion date

2028-01-01

Last updated

2026-09-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital Atransferrinemia

Keywords

transferrin, anemia, iron overload

Brief summary

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.

Interventions

DRUGHuman apotransferrin

intravenous infusion

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Established diagnosis of atransferrinemia, defined as serum levels of transferrin below 40 mg/dl * Informed consent

Exclusion criteria

* Known with allergic reactions against human plasma or plasma products * Having detectable anti-immunoglobulin A antibodies

Design outcomes

Primary

Measure	Time frame	Description
Hemoglobin	15 year	Hemoglobin within normal range
pharmacokinetics of transferrin	first infusion and year 3	serum transferrin levels measured on several time points before and after infusion
iron overload in organs	15 years	Elimination of iron overload (liver, heart)

Secondary

Measure	Time frame	Description
Iron overload	15 years	Serum Ferritin within normal values
Hematocrit	15 years	Hematocrit within normal values
Erythrocytes	15 years	Erythrocytes within normal values

Countries

Germany, Italy, Spain

Contacts

PRINCIPAL_INVESTIGATORCristina R Diaz de Heredia Rubio, PhD, MD

Vall d'Hebron, Spain

PRINCIPAL_INVESTIGATORKatja Moser, MD

klinikum Aschaffenburg, Germany

PRINCIPAL_INVESTIGATORRaffaella Mariani, MD, PhD

AO San Gerardo Monza, Italy

PRINCIPAL_INVESTIGATORAlberto Piperno, MD, PhD