NCT01797055

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.

Trial Health

78
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5

participants targeted

Target at below P25 for phase_2

Timeline
20mo left

Started Dec 2010

Longer than P75 for phase_2

Geographic Reach
3 countries

3 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress90%
Dec 2010Jan 2028

Study Start

First participant enrolled

December 1, 2010

Completed
2.2 years until next milestone

First Submitted

Initial submission to the registry

February 20, 2013

Completed
2 days until next milestone

First Posted

Study publicly available on registry

February 22, 2013

Completed
9.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 31, 2022

Completed
5.8 years until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2028

Expected
Last Updated

August 3, 2025

Status Verified

July 1, 2025

Enrollment Period

11.3 years

First QC Date

February 20, 2013

Last Update Submit

July 30, 2025

Conditions

Congenital Atransferrinemia

Keywords

transferrinanemiairon overload

Outcome Measures

Primary Outcomes (3)

  • 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

Secondary Outcomes (3)

  • Iron overload

    15 years

  • Hematocrit

    15 years

  • Erythrocytes

    15 years

Other Outcomes (2)

  • transferrin levels

    15 years

  • adverse drug reactions

    15 years

Study Arms (1)

human apotransferrin

EXPERIMENTAL

intravenous apotransferrin every 4-8 weeks

Drug: Human apotransferrin

Interventions

Human apotransferrinDRUG

intravenous infusion

human apotransferrin

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Klinikum Aschaffenburg

Aschaffenburg, Germany

Location

AO San Gerardo

Monza, 20900, Italy

Location

Vall d'Hebron Hospital

Barcelona, Spain

Location

MeSH Terms

Conditions

Congenital atransferrinemiaAnemiaIron Overload

Condition Hierarchy (Ancestors)

Hematologic DiseasesHemic and Lymphatic DiseasesIron Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • 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

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 20, 2013

First Posted

February 22, 2013

Study Start

December 1, 2010

Primary Completion

March 31, 2022

Study Completion (Estimated)

January 1, 2028

Last Updated

August 3, 2025

Record last verified: 2025-07

Locations

IT(1)DE(1)ES(1)