Rare Diseases Weekly Roundup

How do we make sure patients receive health information that is clear, trustworthy, and truly helpful? We sit down with Catherine Richards Golini from Karger Publishers to explore the power of collaboration in creating impactful patient resources. From working with healthcare professionals and patient advocates to partnering with researchers and publishers, Catherine shares how involving multiple stakeholders ensures information is not only accurate but also accessible and relevant to those who need it most. We dive into practical strategies, real-world examples, and the lessons learned from bridging perspectives across the healthcare ecosystem.Whether you’re a healthcare provider, patient advocate, or simply curious about health communication, this conversation reveals why collaboration is key to building patient information that empowers.

Join us as we sit down with Paul Romness of OS Therapies to explore an exciting breakthrough in OST-HER2 targeted therapies for osteosarcoma—a rare and aggressive bone cancer. Learn how this innovative approach is offering new hope to patients, advancing precision medicine, and pushing the boundaries of rare disease treatment, not just for humans but for dogs too.Joining the discussion as always is host Owen Bryant, along with George Rack and guest presenter and P4A's MA Oncology expert, Rosa Faria Matthews.Don’t miss this powerful conversation on the frontlines of rare cancer research.Tune in now—because every rare voice matters.  #LetsTalkRare #Osteosarcoma #OSTHER2 #RareDisease #OSTherapies

Discover how artificial intelligence is transforming the future of rare disease research in the latest episode of Let’s Talk Rare, the official podcast from Partners4Access (P4A). Join us as we sit down with Ilya Burkov, AI expert at Nebius to explore how cutting-edge machine learning tools are accelerating the discovery, diagnosis, and development of treatments for rare conditions. With over 300 million people affected by rare diseases worldwide, the need for faster, smarter solutions has never been greater. Ilya sheds light on the real-world applications of AI in identifying new genetic links, optimizing clinical trial data, and personalising care pathways. Whether you're a biotech professional, healthcare provider, or advocate, this episode offers critical insights into how AI is reshaping the rare disease landscape. Tune in now to understand the promises, challenges, and future possibilities of AI in rare disease development—only on Let’s Talk Rare, brought to you by P4A.

In the latest episode of Let's Talk Rare, Owen Bryant & Georgie Rack delve into the world of drug development in rare diseases.They are joined by the brilliant Rob Freishtat, president of Uncommon Cures. Rob brings unique insights on who the key stakeholder are in developing drugs and the many ways that we can bring them together in order to improve and enhance the delivery of much-needed therapies.

Brain cancers are notoriously difficult to manage with current treatments offering limited effectiveness. But what if there was a way to change that? Michael Roberts from Adaptin Bio joins Owen Bryant to explore how a pioneering new treatment called BRiTE is driving hope for improved outcomes for patients.

Dive into P4A's annual appraisal of the year ahead. In this episode of Let's Talk Rare we examine the most important trends as identified and voted for by the P4A team. Ranging from Donald Trump's tariff impact on EU's ability to price orphan drugs to the change of mindset in HTA bodies to include patient experience data in their decision making calculations. Join Owen & Georgie, along with Sophie Schmitz and Pina Haberl for a wide ranging and dynamic discussion on the year ahead.

After3 years in the making, the Joint Clinical Assessment for the EU is in effect. From 12th January 2025 new cancer medicines and advanced therapy medicinal products (ATMPs) will require a JCA across all 27 member states. Join Owen and Georgie, along with guests Darren Callanan and Sam Morrison to discuss the main talking points of the JCA, and what to look out for when dealing with the new regulations.

Welcome to this month's P4A Let’s Talk Rare podcast episode by Partners4Acess. Today, Georgie and Owen are joined by Leonard Mazur, CEO of Citius Pharmaceuticals, to discuss their innovative therapy, Lymphir, for cutaneous T-cell lymphoma (CTCL). Leonard shares his journey with Citius, from its founding in 2013 to the recent resubmission of Lymphirto the FDA, and discusses the drug's potential to alleviate severe itching for the 21,000 annual CTCL patients in the U.S. The conversation also covers Citius's commercialisation plans and ongoing trials exploring Lymphir’s use for other conditions. Join Georgie, Leonard, and co-host Owen for an insightful discussion on how Citius is committed to improving patient quality of life through groundbreaking treatments! Leonard explains how Citius acquired Lymphir in 2021, a drug facing regulatory challenges that they’ve addressed for FDA resubmission, with potential approval expected. They discuss Lymphir’s benefits, especially for CTCL patients, including its potential

In this episode of P4A Let's Talk Rare, hosts Georgie and Owen Bryant from Partners For Access are joined by Wes Michael, founder and president of Rare Patient Voice LLC. Wes shares the organization’s journey from its beginnings as a community project for hemophilia patients to a global platform that connects rare disease patients and caregivers with healthcare professionals. Rare Patient Voice has awarded over $30 million to participants and completed more than 210,000 projects, with Wes highlighting the company’s organic growth through patient referrals and advocacy partnerships. Wes discusses the challenges of reaching patients nationwide, the rewarding impact of patient involvement in healthcare, and the essential role of patient-centricity in shaping drug development and health technology assessments. He emphasizes that patients' voices, as the end-users, are critical for creating effective healthcare solutions. Looking ahead, Wes shares his enthusiasm for expanding Rare Patient Voice into clinical tria

Welcome to this month's episode of the P4A Let’s Talk Rare podcast by Partners4Acess. Today, Georgie and Owen are joined by their colleagues Aurelija Luko, the CFO, and Darren Callanan, the Global Digital Lead at Partners4Access. Join them as they discuss the recent job cuts in the pharma and biotech industry and the reasons behind them. Aurelia explains that redundancies are not limited to the pharma industry and are influenced by factors like mergers, expiring patents, and macroeconomic instability. Darren adds that high drug development costs and pricing pressures also contribute to layoffs. However, he suggests that companies can use digital tools to enhance efficiency and innovation to address industry challenges. They also discuss a digital launch platform and a social listening tool created by Partners4Access.  Aurelia highlights that companies are looking to increase shareholder value and reduce costs. Darren adds that thanks to the high cost of drug development and downward pressure on prices,

Welcome to this month's episode of the P4A Let’s Talk Rare podcast by Partners4Acess. Today, Georgie and Owen are joined by their colleagues Pina Haberl, Senior Director, and Sam Morrison, Executive Director at Partners4Access. Join us as we discuss the crucial role of patient experience data in drug development.  The conversation explores the need for drug developers to understand patient perspectives and gather data on their experiences, preferences, and needs. Pina and Sam highlight how patient experience data can improve drug development and clinical trial design while differentiating products in the market. They also address challenges in collecting and integrating patient data and the importance of involving patients early in the process.  Also discussed is how some regulators and health technology assessment (HTA) bodies have started to accept patient experience data in their decision-making processes, but there is still uncertainty and inconsistency in how it is used.  There is a call for more c

Welcome to this month's episode of Let’s Talk Rare: The Life Science Podcast brought to you by Partners4Access. Host Georgie records this episode at the World EPA Conference in Amsterdam. She holds a panel discussion with Juliette Sinclair-Spence, Sandrine Ruiz,  Neil Grubert, and Seema Sondhi, and together we shared our experiences at the EPA conference.  We also shared our excitement for AI and patient experience topics, as well as the importance of sustainability and finding new pricing approaches in healthcare. Gain insights on inclusivity and involving patients in drug development. Get ready for a meaningful, engaging conversation that will leave you inspired. Take a deep dive into the benefits of tiered pricing, the challenges and concerns of companies and HTA agencies in joint HTA assessments, the importance of inclusivity, and the importance of involving and educating others. Juliette Sinclair-Spence: Bio and Quote LinkedIn Juliette is the Funder and Chairman of the AK Eye Foundation and is a

Welcome to this month's episode of the Let’s Talk Rare: The Life Science Podcast by Partners4Acess. Georgie and Owen are joined by Nick Meade, Head of Policy at Genetic Alliance, to discuss the challenges faced by rare patients in accessing life-saving medicines. Together they explore the EU joint HTA legislation coming into force in January 2025, and the importance of patient experience data. Nick explains that the challenges for rare patients remain the same, with diagnosis being the first hurdle. He highlights the progress being made in genetic diagnoses and screening but emphasizes the need for more harmonization in Europe.  Finally, they touch on the concept of patient experience data, which refers to the inclusion of patient perspectives and outcomes in decision-making processes. Nick emphasizes the importance of this data in understanding rare conditions and leveraging it for better access to treatments. They also discuss the various events and initiatives planned by Genetic Alliance for  the upc

Hello and welcome to this special episode of Let’s Talk Rare: The Life Science Podcast as we celebrate 5 years of bringing you the podcast that is now the number one life science podcast across all platforms. We at Partners 4 Access want to thank every single one of our 35,000 subscribers and all the guests who have graced the podcast from the bottom of our hearts, we would not have gotten here without you.  A special episode calls for special guests, and joining us today are our in-house expert and Managing Partner at P4A, Sophie Schmitz, our host from 2018-2021, Aparna Krishnan, and Prasan Subedi, Access Strategy Team Lead at Pfizer. Together, we walk down memory lane and relive the high points and challenges of the past five years, and share insights on rare diseases and cell and gene therapies. Aparna Krishnan Bio: Aparna has over 10 years of experience in the pharmaceutical and healthcare industry. As part of the senior leadership team, her primary focus is on strategic corporate engagement, legal, f

In this podcast, Georgie, RJ, and Owen discuss revolutionizing patient outcomes and the power of digital health solutions. RJ, a healthcare industry expert, shares insights on the role of technology in improving patient care and the future of digital health. They also touch on RJ's involvement in triathlons and his passion for running. With a friendly and engaging tone, this podcast offers valuable insights into healthcare and the potential of digital solutions. RJ Kedziora Bio: Mr. Kedziora is the co-founder of Estenda Solutions, a leading company specializing in custom software and data analysis for healthcare and medical companies. With a remarkable journey spanning over 30 years, he possesses a deep understanding of designing, developing, and deploying successful software projects. His extensive experience enables him to provide valuable guidance and innovative insights, resulting in cost-effective solutions that improve patient outcomes. Mr. Kedziora received his M.B.A. from West Chester University

Welcome to this month's episode of the Let’s Talk Rare podcast by Partners4Acess. Georgie and Owen are joined by Iola Forster, Head of Publications and Portfolio at Karger Publishers, to discuss the future of patient engagement and the role of technology in healthcare.  Together, they cover the future of HCPs (healthcare practitioners) and patient engagement, highlighting the importance of technology and patient empowerment in driving this evolution. They also emphasize the need for equitable access to healthcare information. The conversation touches on the changing landscape of patient communication over the past fifteen years, with the advent of digital platforms and social media. They discuss how digitization has democratized access to health information and created opportunities for patients to connect with others facing similar conditions. They further explore the impact of digitization on the orphan drug and cell and gene therapy world, emphasizing the role of patient involvement in content creation

Welcome to this month's episode of the Let’s Talk Rare podcast brought to you by Partners4Acess. Georgie and Owen are joined by Chloe Sheppard and Akshay Kumar to discuss the new EU HTA regulation set to be implemented in 2025. They explore the implications for drug developers of ATMPs, the attractiveness of the EU market, and the importance of proactive preparation for the upcoming changes.  The topics covered include: key milestones of the EU HTA regulation; the importance of drug developers of ATMPs and oncology medicines to not adopt a wait and watch strategy; the risks of ignoring this change and the potential impact on clinical development plans, commercialization strategies, and patient access; the opportunities the EU market presents; and the need to start planning and adapting internal processes to successfully navigate the new regulatory landscape. Chloe Sheppard Bio: Chloe serves as a Senior Consultant at Partners4Access, working closely with clients to craft custom solutions for their pricing

In this episode we will be talking to Alejandro (Alex) Dorenbaum, M.D., CMO of Reneo Pharmaceuticals. Alex discusses how the company is developing drugs for patients with #rare mitochondrial diseases, a high unmet disease with no current treatments available. Their lead candidate #Mavodelpar has recently completed enrolment for their pivotal STRIDE clinical trial. STRIDE is a global, randomized double-blind, 6 months, placebo-controlled trial designed to assess the efficacy and safety of Mavodelpar. Alex also discusses the importance of engaging early with #patients and patient organisations for #PMM across the world to truly understand the patient journey, their challenges & daily routines which help to shape the study design. This ensures successful enrolment and patient retention throughout the clinical trial, something Reneo have successfully completed throughout the development of Mavodelpar. By engaging early with patients, clinicians & regulators, they have completed enrolment in record time,

P4A are joined by Xortx Therapeutics' CEO, Dr Allen Davidoff, as he discusses the journey from early development to potential launch for their novel therapy XRX-008 to treat patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Allen discusses the company vision for developing novel therapies for rare progressive kidney disorders, and tells us about the launch journey for their main therapeutic candidate for AKPKD. How they managed to complete enrolment for late phase study in record time by engaging with patients and advocacy groups early, to really understand the patient journey and how the disease affects their quality of life. This helped to shape the clinical trial design by truly putting the patients at the forefront of all decisions and to ensure they were involved at all stages of the process. Bio: Dr. Allen W. Davidoff, Ph.D. (15 years drug development experience ), Currently President and CEO of XORTX Therapeutics Inc (2013- ), Formerly, Chief Scientific Officer, VP Product Devel

P4A host a special episode live from World Evidence, Pricing & Access Conference 2023 in Amsterdam. Join Georgie & Owen hosting live from World EPA Conference 2023. We will be bringing you speaker interviews, giving a flavour of the atmosphere and discussing some of the trends & key takeaways that came out of the conference. Max Rex: LinkedIn: https://www.linkedin.com/in/max-rex-7a364789/   Stefaan Friers: Takeda: https://www.takeda.com/ LinkedIn: https://www.linkedin.com/in/stefaanfiers/   Juliette Sinclair Spence: LinkedIn: https://www.linkedin.com/in/juliettevss/ Website: https://akeyefoundation.com/ Support Group: https://www.facebook.com/groups/acanthamoebakeratitissupportgroup Donate: https://akeyefoundation.com/donation/ Youtube video sharing my story: https://youtu.be/l35c4CF9DwQ Jelle Kleijn: Website: https://www.sifigroup.com/ LinkedIn: https://www.linkedin.com/in/jelle-kleijn-b6bbb520/