According to a story from news-medical.net, Mariona Graupera and Frances Viñals, along with Dr. Antoni Riera-Mestre, announced the completion of research that could lead to a new potential treatment for hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler syndrome. The team completed their study while working at the Bellvitge Biomedical Research Institute at the University of Barcelona. HHT currently has no officially approved treatments, so there is a dire medical need for new therapies. Now, patients with this rare disorder may finally be getting closer to getting the treatment that the really need.
HHT is a rare genetic disorder that causes the formation of abnormal blood vessels in a variety of areas of the body. These vessels often appear on the skin or mucous membranes, but can also form in vital organs such as the brain, lungs, and liver. The primary symptom is chronic bleeding from the resulting blood vessel lesions, often from the nose and within the digestive system. Blood vessel malformations in vital organs may require surgical intervention, as they can cause potentially lethal complications. Many patients need iron supplementation and transfusions due to frequent bleeds. While a variety of mutations can cause HHT, patients affected by the SMAD4 mutation are at a greater risk of colorectal cancer. To learn more about HHT, click here.
Through intensive study of the genes involved in the development of blood vessels and the creation of a feasible mouse model of abnormal blood vessel growth, the research team was able to eventually figure out a way to manipulate these genes and normalize their behavior so that they did not develop abnormal blood vessels and lesions. This achievement was what lead to the team to recognizing the potential benefit for HHT patients.
One of the genes that the team hopes to target is PI3K. Inhibiting this gene in HHT patients that have the ALK1 mutation has already proven to show some benefit in earlier studies, as PI3K inhibitors are already used to treat certain cancers and to suppress immune activity after an organ transplant. ALK1 is responsible for controlling PI3K activity, and the mutated version causes P13K to behave abnormally and start forming unusual blood vessels.
However, only about 35 percent of HHT patients are affected by this mutation mechanism. More research will be necessary in order to determine if PI3K plays a role in HHT patients with other mutations as well.