Global Poland Syndrome Community Register Project

Poland Syndrome Community Register Report - August 2024

By Sam Fillingham | CEO

Real-world data collection from registries has become an invaluable resource for advancing rare disease research. Such data not only aids advocacy groups but also enables researchers, scientists and medical professionals to better understand, characterise, and manage these diseases. This approach, particularly in the context of Poland Syndrome, offers a promising avenue for exploring disease progression and treatment options.

Objectives

In response to the challenges posed by rare disease research, PIP-UK has focused on ensuring the collection of standardised PROMS data that meets regulatory requirements. This initiative aligns with our vision of fostering global collaboration by using technology as a central platform where patients can share their experiences.  

Methods

Since 2021, PIP-UK has collaborated with Pulse Infoframe to launch the Poland Syndrome Community Register. Leveraging the Pulse Platform, we successfully deployed the registry within four months, surpassing our initial recruitment goal of 100 participants in the first three months. We designed common data elements to serve as the core of the registry, enabling comprehensive data characterisation and curation. Furthermore, we ensured compliance with FDA and EMA data standards, as well as HIPAA and GDPR regulations, thereby securing participants' confidence in the safety of their data.

New Survey Data (as of 15 August 2024)  

Survey Participation Overview  

The most recent survey data reveal robust participation across several key areas:  

- Contact Details: 211 participants  

- Demographics: 237 participants  

- Medical History: 300 participants  

- SF-36: 314 participants  

Top 10 Reported Symptoms  

The most frequently reported symptoms among participants highlight the physical manifestations of Poland Syndrome, particularly on the right side of the body:

- Underdevelopment of the major pectoral muscle (right side): 134 participants  

- Uneven chest (right side): 90 participants  

- Underdevelopment of the major pectoral muscle (left side): 94 participants  

- Absent/underdeveloped breast (right side): 66 participants  

- Lack of fatty tissue below the skin (right side): 74 participants  

Age at Diagnosis  

The data show that Poland Syndrome is most commonly diagnosed early in life, with the highest number of diagnoses occurring between ages 0-9:

- 0-9 years: 169 participants  

Age of Participants  

The age distribution of participants indicates a broad range of involvement across all age groups, with the largest number falling between 20 and 39 years old:

- 0-9 years: 52 participants  

- 10-19 years: 33 participants  

- 20-29 years: 69 participants  

- 30-39 years: 69 participants  

Participant Gender  

- Male: 77 participants  

- Female: 104 participants  

Analysis and Insights  

The data from the Poland Syndrome Community Register offer several key insights. Notably, the right side of the body is more frequently affected, with underdevelopment of the major pectoral muscle on the right side being the most commonly reported symptom. 

Diagnoses are predominantly made in early childhood, with the majority occurring between ages 0-9. However, there are still cases identified later in life, even beyond the age of 60, underscoring the need for continued awareness and research across all age groups.

The gender distribution shows a slight female majority among participants, which may provide direction for future studies on gender-related differences in Poland Syndrome presentation and outcomes.

Research Focus

1. Surgical Outcomes Research

   - Lat Flap and Chest Surgeries: Ambassador Kim Daybell has taken the lead in forming a steering committee dedicated to researching the long-term outcomes of lat flap surgery and other chest reconstruction procedures. This research aims to fill a significant gap in knowledge, providing the community with valuable information on the risks, benefits, and overall effectiveness of these surgeries.

   - Patient-Centered Data: The committee will work closely with the Poland Syndrome Community Register to gather and analyse patient-reported outcomes, focusing on post-surgical recovery, quality of life, and any complications that may arise over time. This data will be instrumental in guiding future surgical decisions and improving care protocols.

2. Cross-Sectional Analysis

   - Initial Registry Data: Kim Daybell is also spearheading the development of a cross-sectional paper that will present the initial findings from the register's data. This paper will highlight key insights into the demographics, and symptoms, serving as a foundation for future research.

   - Guiding Future Research: The cross-sectional analysis will not only provide a snapshot of the current state of Poland Syndrome but will also identify areas where further research is needed.

Conclusion

The Poland Syndrome Community Register has seen significant engagement, with participant numbers continuing to grow steadily. Regular updates from our community, particularly through quality-of-life surveys, have been invaluable. We are now gearing up for our first major data analysis with the help of our board members Dr Peter Bannister and Josh Spiegel and ambassador Kim Daybell taking the lead. 

With a strong focus on surgical outcomes, the Poland Syndrome community is taking proactive steps to ensure that individuals have the knowledge they need to make informed decisions about their care. Under the leadership of Kim Daybell, the newly formed steering committee will drive research into the long-term effects of lat flap and other chest surgeries. This work, along with the upcoming cross-sectional paper, will play a crucial role in advancing our understanding of Poland Syndrome and improving outcomes for those affected.

We extend our heartfelt thanks to the donors who have supported us and made our progress possible. Despite our achievements, substantial investment in research is still needed to fully realise the potential of this registry and address the pressing research needs of our community. We remain committed to securing the necessary funding to advance this vital work.

• PSCR Data Dashboard (DOCX)