Congenital hypotransferrinaemia Trials in Disease

Study on the Use of Human Apotransferrin for Treating Patients with Atransferrinemia

This clinical trial is investigating a treatment for a rare genetic blood disorder where the body has very low levels of transferrin, a protein essential for carrying iron throughout the bloodstream. Without enough transferrin, iron cannot be properly distributed to where it is needed, which can lead to serious health problems including anemia and iron buildup in organs like the liver and heart.

Who can participate:

To join this study, patients must have a confirmed diagnosis of the condition, meaning their transferrin levels in the blood are below 40 mg/dL. Both males and females of various ages can participate. Participants must be willing and able to sign an informed consent form, which explains the study details and confirms their agreement to take part. The study is open to vulnerable populations who may need extra care and protection.

Who cannot participate:

Patients who do not have this specific genetic condition cannot join the study. Those who fall outside the specified age ranges being studied are also excluded. Additionally, patients who are unwilling or unable to follow the study procedures, such as attending appointments and following the research team's instructions, cannot participate. People with other medical conditions that might interfere with the study results or pose safety risks are also excluded.

What the study involves:

The trial is testing Human Apotransferrin, a protein-based therapy given directly into the bloodstream through an intravenous infusion. The treatment solution contains 50 grams per liter of human apotransferrin. The study uses a dose escalation approach, meaning participants will receive different amounts of the treatment to help researchers determine the most effective and safe dosage. The treatment works by binding to free iron in the blood and transporting it to cells where it is needed.

Participants will go through several stages during the study. After the initial assessment to confirm eligibility, they will begin receiving the treatment through regular infusions. Throughout the study, the research team will closely monitor how the body processes the drug, including how it is absorbed, distributed, metabolized, and eliminated. They will measure improvements in blood health by checking hemoglobin and hematocrit levels, which indicate how well red blood cells are functioning. The team will also monitor iron levels in organs like the liver and heart to ensure the treatment helps reduce harmful iron buildup.

Study goals:

The main purpose of this research is to evaluate how Human Apotransferrin works in the body and whether it can effectively and safely treat the condition. Researchers aim to understand the best dosage and treatment schedule. They will assess whether the therapy can improve blood function by increasing hemoglobin levels, reduce excess iron stored in organs, and ultimately improve the quality of life for people living with this rare disorder. The study is expected to conclude by January 2028.

Regular safety assessments will be performed throughout the trial to monitor for any unwanted side effects. This comprehensive approach aims to provide valuable information about whether Human Apotransferrin could become a viable treatment option for patients with this rare genetic condition.