Breakthrough Medication for Rare Bleeding Disorder Offers New Hope

A trial found the drug pomalidomide effectively treats hereditary hemorrhagic telangiectasia (HHT), reducing nosebleeds and improving quality of life. The study was terminated early due to positive results, signaling a breakthrough for this rare disorder affecting 1 in 5,000 people globally.

Researchers have uncovered compelling evidence that the bone marrow cancer and Kaposi sarcoma drug, pomalidomide, is effective and safe for treating hereditary hemorrhagic telangiectasia (HHT). This rare bleeding disorder impacts 1 in 5,000 people globally. Courtesy of positive results, the National Institutes of Health (NIH) decided to halt an early clinical trial. Published in The New England Journal of Medicine, the study reveals that patients experienced significant reductions in nosebleeds, needed fewer blood transfusions and iron infusions, and enjoyed an improved quality of life.

'Finding a therapeutic agent that works in a rare disorder is highly uncommon, so this is a real success story,' said Dr. Andrei Kindzelski of NIH's National Heart, Lung, and Blood Institute. 'Before our trial, there was no reliable therapeutic to treat people with HHT. This discovery offers a positive outlook and better quality of life for sufferers.' HHT, or Osler-Weber-Rendu Syndrome, is marked by severe blood vessel defects, causing them to grow untidily. These fragile vessels are prone to leaking, leading to excessive nosebleeds or gastrointestinal bleeding, worsening with age and potentially life-threatening in severe cases.

Currently, HHT treatment involves blocking malformed vessels or using off-label medication to temporarily stabilize affected areas. However, no FDA-approved long-term treatments exist. Researchers speculate that pomalidomide fortifies blood vessels, possibly giving them a normal structure or thicker walls, thus making them less fragile. Nevertheless, further studies are needed. Led by Dr. Keith McCrae of the Cleveland Clinic, the trial enrolled 144 adults with moderate to severe HHT at 11 U.S. medical centers between November 2019 and June 2023. Participants received various doses of pomalidomide or a placebo. The trial was halted early in June 2023 after an interim analysis showed significant efficacy.

'These findings have broader implications for those with more severe HHT cases,' Kindzelski added. 'Severely malformed blood vessels can impact the lungs, liver, and brain, potentially leading to hemorrhagic stroke, lung bleeding, or heart failure. This treatment could be lifesaving.'

Post-trial, while researchers did not continue monitoring participants, Dr. McCrae noted that some patients have avoided nosebleeds for up to six months after stopping medication. This indicates the drug's potential as a long-term or intermittent treatment. (ANI)

(With inputs from agencies.)