Ongoing Clinical Trials for Hypotransferrinaemia
There is currently 1 ongoing clinical trial for hypotransferrinaemia, a rare blood disorder where the body has very low levels of transferrin, a protein essential for transporting iron in the blood. The trial is investigating a treatment called Human Apotransferrin and is being conducted across multiple European countries. (Also known as: Atransferrinemia, Congenital Atransferrinemia)
Clinical trial locations
- Germany
- Italy
- Spain
Study on the Use of Human Apotransferrin for Treating Patients with Atransferrinemia
This clinical trial is investigating a treatment for atransferrinemia, a rare genetic condition where the body cannot produce enough transferrin, a protein vital for transporting iron throughout the bloodstream. When transferrin is missing or severely deficient, iron cannot be properly distributed to where it is needed, leading to dangerous iron accumulation in organs like the liver and heart, while simultaneously causing anemia because iron is unavailable for making healthy red blood cells.
Who can participate: To join this study, patients must have a confirmed diagnosis of atransferrinemia, defined as having transferrin levels below 40 mg/dL in the blood. Both males and females can participate, and participants from vulnerable populations who may need extra care or protection are also eligible. The most important requirement is signing an informed consent document that explains the study details and confirms voluntary participation.
Who cannot participate: The study excludes patients who do not have congenital atransferrinemia or hypotransferrinemia specifically. Participants must fall within certain age ranges specified by the study, and those outside these ranges cannot join. Anyone unable or unwilling to attend appointments and follow the study procedures will be excluded. Additionally, patients with other medical conditions that could interfere with the study results or compromise safety cannot participate.
What the trial involves: The study focuses on evaluating Human Apotransferrin, a protein-based treatment delivered directly into the bloodstream through an intravenous infusion. The solution contains 50 grams per liter of human apotransferrin. Researchers will test different doses to identify the most effective and safe amount for treating this condition. The trial aims to understand how the body processes this treatment, how well it works, and whether it is safe for patients.
Throughout the study, participants will undergo regular monitoring to assess several important factors. Doctors will measure increases in hemoglobin and hematocrit levels, which are indicators of healthy blood function and oxygen-carrying capacity. They will also track decreases in serum ferritin and monitor iron levels in the liver and heart to ensure the treatment reduces dangerous iron overload without causing new problems. Safety assessments will be conducted continuously to watch for any adverse effects.
Investigational drug: Apotransferrin is the therapy being studied in this trial. It works at the molecular level by binding to free iron ions in the blood and facilitating their transport to cells throughout the body where iron is needed. This replacement therapy aims to restore the missing or deficient transferrin, helping to normalize iron distribution and prevent the harmful effects of iron overload while addressing the anemia that typically accompanies this condition.
The study is expected to conclude by January 2028, allowing sufficient time to evaluate the long-term effectiveness and safety of this treatment approach for managing atransferrinemia.
Summary
Currently, there is only one active clinical trial for hypotransferrinaemia, reflecting the rarity of this genetic condition. The trial is being conducted across three European countries: Germany, Italy, and Spain, providing access to patients in multiple locations. The focus is entirely on Human Apotransferrin, a protein-based replacement therapy that represents a promising approach to addressing the underlying cause of the condition rather than just managing symptoms.
The international nature of this trial highlights the collaborative effort needed to study ultra-rare diseases, where patient populations are small and scattered across different countries. The study’s comprehensive approach, examining not only how the treatment works but also its effects on various aspects of iron metabolism and blood health, demonstrates a thorough scientific investigation that could significantly improve quality of life for those affected by this challenging condition.
