According to a story from the BHD Foundation, Patient Worthy partner The Myrovlytis Trust, along with the BHD Foundation and Pulse Infoframe, are collaborating on an international Birt-Hogg-Dubé (BHD) syndrome patient registry that has just recently gone live. Known officially as the BHD Syndrome International Registry (BIRT), patient registries have become valuable tools for rare disease research and drug development. The kick off of this registry is a powerful first step towards developing a cure for BHD syndrome.
About Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant genetic disorder. It is characterized by the appearance of cysts on the lungs and kidneys, an increased risk of kidney cancer, and the appearance of small tumors affecting the hair follicles called fibrofolliculomas. This syndrome is caused by genetic mutations impacting the FLCN gene. This gene codes for the protein folliculin, which has tumor suppressing properties. Fibrofolliculomas affecting the face, neck, and upper chest are the most common symptom, followed by pulmonary cysts and kidney tumors/cancers. The risk of kidney cancer is seven times higher than normal in BHD syndrome patients. 100 families are known to be affected, and symptoms vary among them. Management includes prevention of lung cysts and kidney cancer and surgical removal of fibrofolliculomas (though they usually return). Regular monitoring for tumors and cysts is strongly recommended. To learn more about BHD syndrome, click here.
About Patient Registries
By joining this patient registry, people living with the disorder get the opportunity to play a direct role in research related to their disease. Patient registries serve as a centralized database that collects comprehensive information about people that are living with a given condition. This model of information gathering is especially valuable for rare diseases and can help accelerate the pace of research and drug development.
The registry will become progressively more useful and effective as more people with the syndrome join up, so if you’re a BHD patient, then this is a perfect opportunity to help a make a difference. For more in-depth information and to get signed up, click here.