August 12, 2021, London, Canada—PIP-UK is joining Rare Central, the rare disease platform powered by Pulse Infoframe, to create the UK Poland Syndrome Community Register. The PIP UK charity will unveil the project at its annual conference and family weekend away in the UK on August 14 and 15. This patient registry will document the Poland Syndrome community’s patient experience to advance research and improve health outcomes.
“I am a 67-year-old man with Poland Syndrome–though up until a few years ago I had no idea that is what it is called,” writes Richard Walker, one of several contributors to PIP-UK’s blog.
Poland Syndrome’s status as a rare disease means many doctors do not know it exists. It is a birth difference mainly characterized by the absence of an underdeveloped or missing pectoral muscle. However, other signs, such as webbed fingers or missing digits on one hand, may also be present. The cause is unknown, though reduced blood flow to the affected part in the womb is suspected. When a patient presents with these signs, a long journey of visits with specialists follows, usually ending with inconclusive diagnoses.
“This project is the key to unlocking the uncertainty and information gap that people living with Poland Syndrome experience every day,” says Sam Fillingham, CEO of PIP-UK. “This is the foundation to changing perceptions and influencing public health strategy to improve the lives of everyone with Poland Syndrome: giving Poland Syndrome a stronger voice and robust evidence with medical professionals. It is not uncommon to receive a late diagnosis and to have nowhere to go to seek treatment for your Poland Syndrome symptoms. This register will help inform us so we can improve the diagnosis and therapeutic interventions to ensure people are no longer left alone seeking their diagnosis and treatment. This will enable us to conduct research and improve the health outcomes for the Poland Syndrome community. We are excited to get started.”
An international patient registry dedicated to Poland Syndrome will help ensure that stories like Walker’s no longer happen. Because Poland Syndrome is rare, researchers have few resources to study it. Rare Central, as a rare disease platform that can house data from multiple rare disease communities, allows researchers to study commonalities across diseases and conditions, thereby giving researchers a richer set of data. This in turn can increase the opportunities for effective treatments for several rare diseases at once.
“The patient’s voice and their experiences are key to developing any effective treatments,” says Dr. Femida Gwadry-Sridhar, founder and CEO of Pulse Infoframe. “By creating a global patient registry using a platform designed specifically for rare diseases, PIP-UK will be able to not only reach out to people around the world who live with Poland Syndrome, but they will also be able to attract the attention of researchers who study similar congenital birth differences, which can provide further insights into possible treatments.”
For more information about PIP-UK and to sign up to receive updates on the UK Poland Syndrome Community Register, visit pip-uk.org. For more information about Pulse Infoframe, visit pulseinfoframe.com.
PIP-UK’s primary goal is to be visible and raise awareness of Poland Syndrome. Very little is known about the rare birth difference and it’s hard to find the right people in the know in the medical community. PIP-UK wants to change this situation and make sure people get access to the right information. Their blog has videos on all sorts of things, from how to tie shoelaces to how to prepare your family for a child’s surgery. These stories demonstrate that Poland Syndrome should not hold a family back from anything.
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.