February 17, 2022, London, Canada—The Myrovlytis Trust is creating a patient registry for Birt-Hogg-Dubé Syndrome (BHD) to better understand the epidemiology of the disease, its prevalence, and the disease trajectory, to improve the quality of life for this community, and to ultimately develop treatments for BHD. Six hundred families are currently known to carry the gene mutation that causes BHD, but its prevalence is expected to be far greater. To advance their mission the Trust is joining a growing number of rare disease advocacy organizations, leveraging Pulse Infoframe’s registry platform.
BHD causes lung cysts, collapsed lung (pneumothoraxes), and benign skin lesions (fibrofolliculomas). About 30% of patients will develop kidney cancer. The kidney cancer is slow growing and rarely metastasizes; however, patients need surgery to remove the tumors once they are greater than 3 cm in diameter. There is no cure for BHD, so patients must have individual symptoms treated as they appear.
“We are delighted to be initiating the BHD International Registry (BIRT) in partnership with Pulse Infoframe,” says Dr. Anna Webb, director of The Myrovlytis Trust and BHD Foundation. “This is an opportunity for the BHD community to be actively involved in research to further our understanding of the disease, to reach a consensus on diagnostic and management criteria and, importantly, to aid vital research that will lead to new treatments for BHD. We are excited to start work on this registry and engage with the community to achieve our common goal of accelerating research for BHD.”
Because BHD is rare, researchers have few resources to study the condition. Pulse Infoframe’s platform follows a stringent security and governance framework to house data from multiple rare disease communities. This allows researchers to study commonalities across diseases and conditions, which enhances the data available for research. This, in turn, can increase the opportunities to develop effective treatments for several rare diseases at once.
“Our platform follows rigorous data standards set by research bodies around the world,” says Dr. Femida Gwadry-Sridhar, founder and CEO of Pulse Infoframe. “Because BHD is so rare, research must be conducted globally to find effective treatments. Our HIPAA- and GDPR-compliant platform offers the opportunity to work with patients almost anywhere in the world and still submit standardized data that meet stringent standards for treatment approvals.”
About The Myrovlytis Trust
More than 7000 rare diseases have been described, affecting 300 million people globally. It takes, on average, over 4 years for an individual to receive a diagnosis, and even then, only 400 of these diseases have an approved treatment. We passionately believe that no one should be disadvantaged because they have a rare disease.
By providing information and support to patients, raising awareness among clinicians and the public and strategically funding research, The Myrovlytis Trust aims to transform the outlook for rare diseases. With an initial focus on two conditions (Birt-Hogg-Dubé Syndrome and Osteosarcoma), we fund research directed towards new treatments. We want to ensure that these patients gain access to the same state-of-the-art technologies, breakthroughs and therapies as those with more common disease.
The overall goal of The Myrovlytis Trust is to provide support, drive research and improve outcomes for patients and their families.
About Pulse Infoframe
Pulse Infoframe is a real-world evidence generation, health informatics and insights company that provides a technology and services platform designed to extract, curate, analyze and disseminate evidence-based conclusions that improve the quality of people’s lives. Pulse Infoframe provides a full solution for registries, natural history studies and a range of other observational and regulatory grade studies. With provider relationships for patient access, Pulse Infoframe ensures that insights, evidence and publication results are disseminated across the ecosystem, including advocacy organizations, key opinion leaders, researchers and sponsors. Learn more at www.pulseinfoframe.com.