Guest Blog Post by Pulse Infoframe.
The Myrovlytis Trust, BHD Foundation, and Pulse Infoframe are pleased to announce that the BHD Syndrome International Registry is open for recruitment.
What Is Birt-Hogg-Dubé Syndrome?
Birt-Hogg-Dubé (BHD) syndrome is a rare, inherited condition that is characterized by the development of benign skin tumors (fibrofolliculomas), pulmonary cysts, collapsed lung (pneumothorax), and a predisposition to kidney (renal) cancers. It’s an autosomal dominant disorder caused by a mutation in a gene called folliculin.
There is no cure for BHD, so patients must have individual symptoms treated as they appear.
How Many Patients With Birt-Hogg-Dubé Syndrome Will Develop Renal Cancer?
BHD Syndrome causes renal cancer in about 30% of patients. The kidney cancer is slow growing and rarely metastasizes. However, once tumors become greater than 3 cm in diameter, patients need surgery to remove them.
How Rare Is Birt-Hogg-Dubé Syndrome?
Currently, around 600 families are known to be affected by Birt-Hogg-Dubé Syndrome; however it is believed to be far more prevalent, and the condition is likely underdiagnosed. This is in part why the Myrovlytis Trust and BHD Foundation have begun the BHD Syndrome International Registry, BIRT for short. Not only will it give a better understanding of the prevalence of the condition, it will aid vital research that will lead to new treatments or hopefully even a cure for BHD.
What Is the BHD Syndrome International Registry (BIRT)?
BIRT is a patient registry for Birt-Hogg-Dubé Syndrome. It will help healthcare practitioners and researchers better understand the characterization of the disease, its prevalence, and the disease trajectory. Another goal is to use the data to help improve the quality of life for the BHD community, to reach consensus on the diagnosis and management of BHD, and, ultimately, to help researchers develop treatments or a cure. The Myrovlytis Trust and BHD Foundation are managing the patient registry, and Pulse Infoframe is developing and hosting it.
How Will BIRT Help Birt-Hogg-Dubé Patients?
By participating in BIRT, BHD patients will not only learn about BHD over time, but they’ll also contribute to a growing body of knowledge about the syndrome. This knowledge will be used to develop new therapies.
Broadly, the BHD Syndrome International Registry aims to achieve the following goals:
- Develop clear guidelines for diagnosis and management.
- Determine the prevalence of BHD.
- Determine if there are other manifestations associated with BHD (aside from those already known in the skin, lungs, and kidneys).
- Collect information on the type of kidney cancer most likely to develop in BHD.
- Collect information on how patients manage their symptoms on an ongoing basis.
- Determine if particular genetic variants are associated with particular manifestations.
- Collect lifestyle information to understand if environmental factors influence the treatment or management of Birt-Hogg-Dubé Syndrome.
- Assess the quality of life of those living with BHD.
- Use the registry as a database to recruit for clinical trials.
How Does BIRT Work?
In a nutshell, participants enter data about themselves into BIRT to make the data available for research. The more participants who contribute to the registry, the more data can be collected to aid research.
The BHD Syndrome International Registry goes much further than this. Participants can view and update their information in a user-friendly environment that includes patient reported outcomes instruments, previously uploaded clinical results, and other educational and engagement tools. This means they’ll not only add their own information to the patient registry, but, in time, they’ll also have one place for all their clinical information, and they’ll learn more about BHD.
An Important Part of Research: Patient-Reported Outcomes
Patient-reported outcome (PRO) surveys provide the context necessary for researchers and drug developers to understand patient experience. PRO surveys are a part of BIRT and have been designed by QualityMetric, a partner of Pulse Infoframe.
BIRT includes QualityMetric’s SF-36v2 PRO survey, which is standardized with regulatory-ready data for a greater understanding of disease impact for patients across disease conditions. This eliminates the obstacle of poorly understood or undocumented symptoms when measuring quality of life as it relates to the health of participants. By integrating the SF-36v2 PRO survey, researchers who study the data in BIRT may better understand what participants experience. Furthermore, the survey provides continuity in measuring how BHD Syndrome affects the daily lives and the mental health of those with this rare disease. This can lead to a better understanding of BHD Syndrome, as well as an increased awareness of potential therapy initiatives.
What about Patient Privacy?
Patient privacy and data security are extremely important to everyone involved in BIRT. The Pulse Infoframe platform was designed from the ground up to support international regulatory data standards such as GDPR, HIPAA, PHIPA, etc. Patient privacy therefore begins with removing all identifying information, such as name, age, sex, and more from a patient’s health information as it’s entered into BIRT.
Next, let’s discuss researcher and clinician access. Security processes and technologies are integrated into all aspects of the BHD patient registry, so only the right people may access the data they are authorized and entitled to see. This access also includes what patients consent to sharing: no data are shared without a patient’s clear consent. A consent form is digitally available and verified by DocuSign.
Finally, there’s what patients themselves can access. Patients can access to their own data at any time and can consent to share their data with providers and other relevant parties as they see fit.
How to Learn More and Register
The Myrovlytis Trust has funded over £6 million in research conducted in over 20 academic institutions in eight countries for BHD since its founding in 2007. The BHD Syndrome International Registry will make it easier to continue researching Birt-Hogg-Dubé Syndrome almost anywhere in the world.