Congenital AtransferrinemiaPhase 2NCT01797055

Apotransferrin in Atransferrinemia

A Phase 2 study testing Human apotransferrin in people with Congenital Atransferrinemia, run by Prothya Biosolutions at 3 sites in 3 countries.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record

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Trial 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. Read more about this study

Who is it for?: Any age
Conditions the study is for: Congenital Atransferrinemia
What is being tested?: Human apotransferrin
Type of treatment: Injection or infusion
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 5 participants
Where: 3 sitesin 3 countries
Study dates: Dec 2010to Jan 2028
Phase: Phase 2
Are there results?: Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages Any age
All sexes
No healthy volunteers
Child, Adult, Older adult

Who may be able to join

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

Who cannot join

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

Trial locations and contacts

3 sites in 3 countries.

Country

City, postcode or hospital

3 sites in 3 countries

Germany1 site

Klinikum Aschaffenburg
Aschaffenburg

Other trials in Germany

Italy1 site

AO San Gerardo
Monza, 20900

Other trials in Italy

Spain1 site

Vall d'Hebron Hospital
Barcelona

Other trials in Spain

About this study

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

Conditions: Congenital Atransferrinemia
Being tested: Human apotransferrin
Keywords: transferrin, anemia, iron overload
Medical subject headings: Congenital atransferrinemia, Anemia, Iron Overload

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Human apotransferrinDrug
intravenous infusion

Study groups in NCT01797055
Study group	Role	What they receive
human apotransferrin	Experimental	intravenous apotransferrin every 4-8 weeks Receives: Drug: Human apotransferrin

What is being measured

The primary outcome is the main question the study is designed to answer.

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

Secondary outcomes (3)

Iron overload
Serum Ferritin within normal values
Measured: 15 years
Hematocrit
Hematocrit within normal values
Measured: 15 years
Erythrocytes
Erythrocytes within normal values
Measured: 15 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

Dec 2010Jan 2028

First posted22 Feb 2013 (estimated)
Study startDec 2010
Primary completion31 Mar 2022
Study completionJan 2028 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Congenital AtransferrinemiaStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Interventional
Phase: Phase 2
Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Enrolment: 5 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT01797055
Sponsor's protocol ID: MD2009.04
Status last verified: Sep 2026
First submitted: 20 Feb 2013
Last updated: 16 Sep 2026
Results posted: No
Data monitoring committee: No

Study at a glance

From the registry record, last updated by the sponsor on 16 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients
ClinicalTrials.gov ID: NCT01797055
Acronym / sponsor ID: MD2009.04
Conditions: Congenital Atransferrinemia
Keywords: transferrin, anemia, iron overload
Phase: Phase 2
Study type: Interventional
Recruitment status: Active, not recruiting
Enrolment: 5 participants (actual)
Lead sponsor: Prothya BiosolutionsIndustry (pharma, biotech, devices)
Study start: Dec 2010 (actual)
Primary completion: 31 Mar 2022 (actual)
Study completion: Jan 2028 (estimated)
First posted: 22 Feb 2013 (estimated)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Study design

Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Number of arms: 1

Arm	Type	Receives
human apotransferrin	Experimental	Drug: Human apotransferrinintravenous apotransferrin every 4-8 weeks

Who may qualify

Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult

Key inclusion criteria (2 listed)

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

Key exclusion criteria (2 listed)

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

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
Human apotransferrinintravenous infusion	Drug	human apotransferrin

Primary outcome

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

3 secondary outcomes

Iron overload
Time frame: 15 years
Hematocrit
Time frame: 15 years
Erythrocytes
Time frame: 15 years

Results and safety

This study is still under way. Results are not available in the source record yet.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 16 Sep 2026.

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Cristina R Diaz de Heredia Rubio, PhD, MD principal investigator

Vall d'Hebron, Spain

Katja Moser, MD principal investigator

klinikum Aschaffenburg, Germany

Raffaella Mariani, MD, PhD principal investigator

AO San Gerardo Monza, Italy

3 sites in 3 countries: see every site and its status.

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing Human apotransferrin in people with Congenital Atransferrinemia, run by Prothya Biosolutions at 3 sites in 3 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: under way, not looking for participants, as of the sponsor's last update on 16 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 3 sites in Germany, Italy, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this phase mean?

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Hemoglobin (time frame: 15 year). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01797055.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Sep 2026.