Vascular malformation

This study tests an experimental drug called ATV-1601 in people with moderate to severe HHT, a condition that causes frequent nosebleeds and anemia. The trial has two parts: first, participants receive either the drug or a placebo to check safety and effectiveness; then, all elig…

This Phase 2 study tests an oral drug called RLY-2608 in adults and children with overgrowth conditions (like CLOVES or Klippel-Trenaunay syndrome) caused by PIK3CA gene mutations. The drug is designed to block the faulty protein driving abnormal tissue growth. The trial will enr…

This study is testing a treatment called electrosclerotherapy for people with low-flow venous malformations (abnormal blood vessels present from birth). The goal is to shrink the malformation by at least 30% and reduce pain. About 65 participants will receive the treatment and be…

This phase 2 trial is testing two targeted drugs—alpelisib and mirdametinib—in 50 people with slow-flow or fast-flow vascular malformations that haven't responded to standard treatments. The goal is to see if these drugs can improve each person's most bothersome symptom over 48 w…

This Phase 2 trial tests the oral drug everolimus in 10 adults with vascular malformations—abnormal clusters of blood vessels. The goal is to see if the drug can shrink these lesions and reduce complications like bleeding. Participants take everolimus daily for up to a year, with…

This early-phase trial tests a new nasal ointment called TOR-582, which contains sirolimus, in 27 adults with hereditary hemorrhagic telangiectasia (HHT) who have frequent nosebleeds. Participants apply the ointment inside their nostrils twice daily for 12 weeks, with different s…

This study aims to develop a standardized questionnaire that lets patients with venous malformations report their own symptoms and treatment outcomes. Venous malformations are abnormal veins that can cause pain, swelling, and emotional distress, and current assessments may miss w…

This study creates a large registry of people diagnosed with hereditary hemorrhagic telangiectasia (HHT), a condition causing abnormal blood vessels and bleeding. Researchers will collect medical records and annual health updates for up to 10 years to understand how the disease c…

This study is creating a registry of up to 1,000 people with rare lymphatic system disorders. Researchers will collect information from medical records and yearly surveys to understand how these diseases progress, what treatments are used, and how they affect quality of life. The…

This study follows 400 pregnant women with rare blood vessel diseases (like HHT, Marfan syndrome, or lymphedema) to learn about serious pregnancy complications. Researchers will ask participants about their health during pregnancy and for 12 months after birth. The goal is to gat…

This study tests whether a wrist-worn device can help monitor pregnant women with congenital heart disease. Researchers will track heart rhythms and other data from 50 participants to see if the wearable can detect early signs of trouble. The goal is to improve care and reduce th…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …