Medical research is presented with a lot of unique challenges, in terms of understanding and treating rare diseases. With limited data availability and diverse regulatory landscapes, the need for comprehensive guidance and collaboration is paramount.

At PHUSE, we are committed to advancing rare disease research through our initiatives and partnerships. This blog post aims to shed light on our recent endeavours in this crucial area.

US Connect 2024 – Panel Discussion

When a disease affects fewer than 1 in 2,000 people, it means the disease is rare. It’s a global matter, in which 300 million people are affected, with a large population of those being children. And currently, there are over 7,000 identified rare diseases, about 95% of which do not have an approved method of treatment/drug.

At the US Connect 2024, we held a Panel Discussion titled ‘Are We There Yet? Rare Disease Clinical Trials’. Our expert panellists delved into crucial topics, addressing the complexities and opportunities within the area of rare disease research:

• Understanding the unique challenges of rare disease clinical trials
• Innovations in statistical methodologies that support small population studies
• Initiatives that support research and development
• The role of patient and caregiver advocacy
• New technologies and strategies to enable cost-effective solutions
• Global collaboration between researchers, pharmaceuticals and regulatory authorities

The Panel shared strategies which enable the best outcomes for patients, as the clinical trial research and development area is rapidly evolving. Aided by a collaborative and multi-prong mindset, these strategies bring a unique opportunity to meet this largely unmet demand head on.

Rare Disease Day, celebrated annually on the last day of February, holds significant importance in raising awareness and support for those affected by rare diseases. This year, the US Connect took place the same week as Rare Disease Day, providing a fantastic opportunity for PHUSE to contribute to the cause. As part of our commitment to making a difference, PHUSE fundraised for the Cure Mito Foundation, which is dedicated to supporting families impacted by Leigh syndrome, a rare neurodegenerative mitochondrial disease.

With 1 in 40,000 individuals affected and over 110 genes implicated, the Cure Mito Foundation works tirelessly to promote awareness, education and research for potential treatments and cures. PHUSE would like to thank the 30 supporters to the cause. The target reached $3,000 in donations. By donating to the Cure Mito Foundation, together, we hope to drive positive change and improved outcomes for those affected by rare diseases.

PHUSE Real World Evidence Working Group

The Working Group project Best Data Practices for Rare Disease Patient Foundations and Researchers aims to bridge the gap between industry and patient communities in the collection of regulatory-quality data. This project acknowledges that patient foundations collect data through patient registries with the intention of accelerating drug development and facilitating clinical trials, though they often face challenges in achieving this goal.

The primary objective of the Project is to create awareness and provide education on the significance of adhering to best practices in collecting regulatory-quality data. By enhancing data quality standards, the initiative aims to empower patients and patient groups with valuable knowledge and information.

Hear from Sophia Zilber, PHUSE Project Lead and Alexion AstraZeneca Rare Disease, Cure Mito Foundation

“I started a Working Group project with PHUSE – Best Data Practices for Rare Disease Patient Foundations and Researchers – as a result of my professional and personal experience in the rare disease space. Rare disease patient foundations collect data through patient registries with the intention of using the data in clinical trials and accelerating drug development. Yet, this rarely happens. Industry is not very familiar with patient-led registries and how such registries can be used. At the same time, patient communities collect data but don’t always have the resources and expertise to ensure the collected data is high enough quality. Or, they’re not familiar with what industry may expect from the data.

My hope for our Project is to build bridges between industry and patient communities. We have produced several educational resources on the topics of starting a registry, transparency in running a registry, and addressing some of the common myths and facts. We are now working on some new materials and welcome new members to join our group.

During the PHUSE US Connect 2024, I was honoured to participate in a Panel Discussion titled ‘Are We There Yet? Rare Disease Clinical Trials’. The Panel was moderated by Tripti Bhaskaran, GSK and included Todd Case, Vertex Pharmaceuticals, Berber Snoeijer, ClinLine, Michael Litzsinger, BioCryst Pharmaceuticals and Sheeba Arnold, UT Southwestern Medical Center.

As a Board member and patient registry director for Leigh syndrome for the Cure Mito Foundation and in memory of my daughter, who I lost to this disease in infancy, I’m in a unique position to see the challenges and opportunities from both sides. This year, the conference coincided with Rare Disease Day, and PHUSE had a dedicated fundraiser for Cure Mito, shared flyers, and spread a lot of awareness throughout the event. I’m incredibly grateful for this support.”

As we move forward, PHUSE remains committed to driving positive change and improving outcomes for individuals and families affected by rare diseases. Through continued collaboration, education and approval, we aspire to make meaningful strides towards advancing rare disease research and ultimately improving the lives of those in need.

If you’re interested in getting involved in the Best Data Practices for Rare Disease Patient Foundations and Researchers project, email workinggroups@phuse.global.