A drug approved for treating multiple myeloma may have potential to reduce the risk of severe nosebleeds in patients with hereditary hemorrhagic telangiectasia (HHT), a rare bleeding disorder. HHT affects approximately 1-in-5,000 people and can have life-threatening complications, but there are currently no FDA-approved drugs to treat it. The PATH-HHT study, conducted at Massachusetts General Hospital, evaluated the oral drug pomalidomide to treat bleeding in HHT patients. The trial found that the drug resulted in a significant reduction in the severity of nosebleeds and improved quality of life. Results of the study were published in the New England Journal of Medicine.
Patients with HHT often experience severe nosebleeds, chronic gastrointestinal bleeding, and vascular malformations in internal organs. These symptoms can have a significant impact on their health-related quality of life, leading to unemployment and social isolation. The PATH-HHT study, sponsored by the NIH, enrolled patients at 11 centers to evaluate the efficacy of pomalidomide in treating HHT manifestations, focusing on severe nosebleeds. The primary outcome showed significant improvements in longitudinal nosebleed severity over time in the pomalidomide group compared to the placebo group.
The study was intended to enroll 159 participants but was closed early due to exceeding its efficacy threshold. The most common side effects of pomalidomide were neutropenia, constipation, and rash, which were mostly mild and manageable. Further studies are required to determine the mechanisms of action of pomalidomide in treating HHT and if it could have similar effects on other HHT complications. Future research will help to understand the drug’s potential in treating gastrointestinal bleeding and other manifestations of the disease.
Massachusetts General Hospital is a designated HHT Center of Excellence, serving over 500 families with HHT in Massachusetts, New England, and upstate New York. The hospital’s HHT Center, led by Dr. Hanny Al-Samkari and Dr. Josanna Rodriguez-Lopez, offers clinical trial opportunities for patients with HHT. The success of the PATH-HHT study was attributed to the collaborative efforts of healthcare professionals within the Mass General Cancer Center and the dedication of research nurses, coordinators, and associates.
The findings of the PATH-HHT study demonstrate the safety and efficacy of pomalidomide in treating bleeding in HHT patients, providing a much-needed effective treatment option for this rare disease. While more work is needed to develop additional therapies for HHT, the study sets a precedent for the development of effective drugs to manage the symptoms of the disease. The success of the multicenter trial highlights the importance of collaborative efforts in addressing complex multisystem diseases like HHT and the potential for novel treatments to improve patient outcomes.
