Cure HHT plays pivotal role in the NIH-sponsored PATH Trial becoming the first successful, large-scale randomized trial for HHT -- the results of which are published in the New England Journal of Medicine.
MONKTON, Md., Sept. 19, 2024 /PRNewswire-PRWeb/ -- Cure HHT — a nonprofit organization working to fund global research, awareness and education for HHT (Hereditary Hemorrhagic Telangiectasia) — played a critical role in facilitating an announcement from the National Institutes of Health of the first positive, large-scale randomized trial for an HHT therapeutic.
The NIH-sponsored PATH Trial studied the efficacy of pomalidomide, a drug used to treat bone marrow cancer and Kaposi sarcoma, in the treatment and management of HHT-related bleeding. The trial — the results of which are published in the New England Journal of Medicine — was stopped early after researchers found sufficient evidence that HHT patients who received the drug experienced significant reduction in nosebleeds, needed fewer of the blood transfusions and iron infusions that HHT often demands, and showed improved quality of life. Cure HHT provided essential support in securing funding and recruiting study participants across the four years of the trial.
HHT is a genetic bleeding disease that affects an estimated 1.4 million people worldwide. Despite its prevalence — it is as common as cystic fibrosis and twice as common as hemophilia — HHT is severely underdiagnosed. Just 10% of people with HHT have received a clinical diagnosis.
The disease is characterized by two types of vascular abnormalities: telangiectasias and arteriovenous malformations (AVMs). These abnormalities can weaken blood vessels and cause ruptures that lead to bleeding. AVMs appear in major organs including the lungs and brain, where bleeding can be life-threatening and even fatal. Telangiectasias are smaller malformations and often occur in the nasal passages where they can cause frequent nosebleeds (epistaxis). While nosebleeds are not always the most serious symptom of HHT, they are the most common and can impact quality of life for those managing them.
There are currently no FDA-approved therapeutics for treatment of HHT, though some therapeutics have been shown to be effective. Ahead of clinical trials, researchers speculated that pomalidomide might block the growth of abnormal blood vessels, which could improve some symptoms of HHT. Cure HHT was key in advocating for funding necessary to support this study and was essential to recruitment efforts within the HHT community.
"Support from Cure HHT played a critical role in this study from the time of implementation through completion," said Keith McCrae, M.D., the PATH Study's Principal Investigator and the Co-Director of the HHT Center of Excellence at Cleveland Clinic. "The constant advocacy of Marianne Clancy for federal research support, the vast patient network and databases, online and in-person recruitment efforts, patient support for travel and so many other contributions from Cure HHT helped to carry us across the goal line."
Between November 5, 2019, and June 27, 2023, researchers enrolled 144 adults with HHT at 11 medical centers across the U.S. All participants experienced moderate to severe nosebleeds requiring iron infusions or blood transfusions. Ninety-five participants received a daily dosage of pomalidomide, while the remaining 49 individuals received a placebo sugar pill designed to look identical to pomalidomide.
Researchers measured the results of the trial against two outcomes: epistaxis severity score (ESS) and quality of life. Trial participants self-reported on both metrics throughout the course of the trial. While both groups reported initial improvement in ESS and quality of life, the test group improved much more significantly across the trial period. Researchers attributed incremental improvement in the control group to more fastidious disease management during the trial.
The trial was planned to last four years, but after 43 months interim analysis determined that pomalidomide had met the predetermined threshold for efficacy and in June 2023 the trial was closed to enrollment.
The trial results have been published in the New England Journal of Medicine (NEJM) — a significant win for boosting awareness for HHT. NEJM is recognized as the world's leading medical journal and website and reaches more than one million physicians every week across multiple disciplines. HHT has not been featured in NEJM since 1995.
"Patient advocacy has always been an essential part of our work, and at the same time we are the catalyst driving HHT science into the future," said Cure HHT executive director Marianne Clancy. "The success of this study and its publication in the New England Journal of Medicine are essential to both of those goals — better treatments will change the lives of thousands of patients impacted by HHT."
At this time, the National Heart, Lung, and Blood Institute is not pursuing FDA registration for pomalidomide as an HHT therapeutic, as more studies are required prior to reaching this milestone. While this study is promising for the future of HHT treatment, it remains vital that Cure HHT continues its work to secure FDA registration for the first time ever for an HHT therapeutic to ensure every patient can access effective therapeutics. Cure HHT is currently one of the only rare disease nonprofits in the world to be directly sponsoring a Phase II/III clinical trial exploring the safety and effectiveness of Pazopanib – a drug that was previously FDA approved for cancer treatment – at treating HHT-related bleeding.
The mission of Cure HHT is to find a cure for HHT while saving lives and improving well-being for individuals and families affected by HHT. The results of this trial bring the organization another step closer to that goal and show meaningful progress toward life without symptoms for people who manage this disease.
About Cure HHT:
About the National Heart, Lung, and Blood Institute (NHLBI): NHLBI is the global leader in conducting and supporting research in heart, lung, and blood diseases and sleep disorders that advances scientific knowledge, improves public health, and saves lives. For more information, visit www.nhlbi.nih.gov.
About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
Media Contact
Riley Blevins, Cure HHT, 1 410-357-9932, [email protected], curehht.org
SOURCE Cure HHT
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