We know the body needs iron to function, but you might not know that it’s also possible to absorb too much iron. Hereditary hemochromatosis (HH) is a genetic condition that causes a deficiency of a hormone called hepcidin, which regulates the availability of iron. Too little hepcidin leads to excessive iron absorption and iron buildup in organs and tissues.
“The resulting iron overload, if untreated, can cause damage to organs including the liver, heart, pancreas, joints and pituitary gland, causing complications such as diabetes, heart failure, arthritis and hepatic cirrhosis,” according to a journal article published by a CSL study team that’s researching a potential new treatment for the condition.
See the article “Patient Insights into and Satisfaction with Treatment, Management, and Clinical Research of Hereditary Hemochromatosis” in the journal, Therapeutic Innovation & Regulatory Science.
Learn more about CSL’s research trial
Little has been reported in the scientific literature about patient experiences living with HH, a disease that currently affects 1 in 300 people in the United States and 1 in 200-500 people of European ancestry.
In 2024, CSL interviewed patients living with HH to better understand their diagnostic journey, care management experiences, preferences and unmet needs. The team was particularly interested in the experience of patients who are intolerant to or do not respond to treatment with phlebotomy, the removal of whole blood.
The study team asked about patient satisfaction with their current treatment, evaluated their attitudes and views toward clinical research on HH and identified potential drivers and barriers to clinical trial participation. These insights helped shape clinical development strategy and study execution planning.
Patients expressed varying levels of satisfaction with their treatment, based on experience of side effects (such as fainting and extreme fatigue), the emotional toll, needle phobia, treatment logistics and time burden. Feelings of altruism, connections with the HH community and the potential for new treatment options were among the motivators to join a clinical trial, while side effects were viewed as the primary barrier.
“We are proud to embed patient insights into the development of our research program and contribute to the broader scientific literature by amplifying lived experiences and frustration with current HH treatment options,” said Sonya Abraham, MD, PhD, Senior Director, Global Clinical Program, Leader, Clinical Development, Hematology.
“Kudos to the clinical development team for prioritizing this partnership with patient advisors and advocates so that we can advance research that truly reflects patient needs and priorities,” said Ellyn Getz, MPH, Director, Patient Engagement.
