In preparation for World Orphan Drug Congress Europe, we interviewed Nathan Chadwick, Senior Director, Therapeutic Strategy Lead, Rare Disease, and Derek Ansel, MS, LCGC, Vice President, Therapeutic Strategy Lead, Rare Disease, to hear their insights into the current progress in rare disease research and their hopes for 2025.
- What was the biggest development in rare disease in 2024, and how has that impacted clinical research or patient outcomes?
NC: I think the continued growth in cell and gene therapy research and the approvals we’re seeing for genetically-driven rare diseases. Both Durveqtix and Adzynma were major advancements this year, as well as the EMA granting PRIME designation for Ultragenyx’s Angelman syndrome, Sangamo’s Fabry disease, and Spur’s Gaucher disease products. The focus on getting PRIME/ODD designations for gene therapies and personalized medicines is allowing sponsors and CROs to speed up the traditionally long process of getting these drugs to market, often in indications where no therapeutic intervention exists.
DA: Several things! First, the beginning of the FDA’s START program, with the goal of accelerating the development of novel drugs and biological products for rare diseases. Selected sponsors will be able to obtain frequent advice and enhanced communication from FDA staff to address program-specific development issues within rare disease. In addition, the White House Rare Disease Forum occurred on Rare Disease Day 2024, where Advanced Research Projects for Health (ARPA-H) announced a new $48 million project that invests in a novel, AI-driven platform to repurpose existing drugs to address rare and other diseases currently lacking treatment options.
Lastly, the development of the Rare Disease Innovation Hub, which aims to serve as a single point of connection and engagement with the rare disease community, including patient and caregiver groups, trade organizations, and scientific/academic organizations, for matters that intersect CDER and CBER. The Hub will help the larger rare disease community navigate important intersections across the FDA that affect patients with rare diseases, such as medical devices, diagnostic tests, and combination products. These innovations show that the FDA are caring more about leveraging collective lessons learned in drug approvals. There’s now a focus on expediting drug development, which is quite exciting. - What innovative collaborations between patient organizations or CROs have you witnessed this year, and how will they affect the future of rare disease research?
NC: I’ve been watching the growth of the European Joint Programme on Rare Diseases, and it’s truly wonderful to see a resource like this available for all. Their virtual platform is fantastic, as well as their collaboration with the European Reference Network are all things CROs should leverage to support their trials.
DA: The EU-X-CT initiative, which Worldwide is a part of, works to address the fact that there is no legislation or guidance in the EU on cross-border enrollment in clinical trials. This will certainly minimize resource churn as we try to support our patients across borders. We’re seeing considerable new innovations when it comes to the drug development process, such as personalized medicine, where scientists are looking to treat a single patient, and drug repurposing, which uses already available drugs to treat diseases with no approved treatments. Both approaches need experts in the drug process, and CROs can definitely make an impact. - Looking ahead to 2025, what are your hopes for rare disease research?
NC: With the advancements in AI across the industry and companies like Every Cure, who utilize AI to repurpose drugs for patients in need, I’m excited about how we can use this new trend to solve two key problems in clinical research: speed and quality.
DA: The pressure on agencies around the selection and focus on endpoints. It’s 2024, and we’re still having the same conversations around endpoints and their validity. Elevidys, a gene therapy in DMD, was granted expanded approval in patients >4 years old despite the drug not meeting its primary endpoint with the North Star Ambulatory Assessment, a scale commonly used to rate motor function in males with DMD who are capable of walking. I’m encouraged by caregiver-led groups like the Inchstone Project that are working to create a novel COA to measure improvements in patients with rare epilepsies. - What emerging technologies or therapies are you most excited about for 2025, and how do you think they will impact rare disease treatments?
NC: We’re seeing several personalized medicines, such as CAR-T and CRISPR, now being investigated in rare diseases. I’m excited to see this transition and hopeful that, given their robust background in oncology, we can leverage these to our collective advantage.
DA: I’m excited about the newborn sequencing research efforts. These technologies will have a profound impact on the lengthy diagnosis journey and rate patients with a rare disease experience all the time. - What key challenges do you hope will be addressed in 2025?
NC: Although EU-CTR has drastically improved and harmonized trials in Europe, I would like to see more harmonization between member states, specifically when working in rare disease trials with little to no standard of care treatment. I would also like to see better access to medicine and quicker approvals of new drugs, as NICE’s rejection of lecanemab was a particularly low point in 2024.
DA: Investor risk aversion to gene therapy companies and the number of gene therapy companies that have gone under this year. There have been several examples of this – Pfizer terminated their DMD gene therapy program, Astellas closed a gene therapy facility, Spark experienced layoffs, BioMarin stopped development of BMN 293, UniQure restructured, Takeda closed a gene therapy plant, Tome Biosciences laid off most of their workforce, etc.
Partner with Worldwide for Your Next Rare Disease Study
As rare disease clinical research continues to evolve, make sure you have a CRO partner who is staying ahead of the latest advancements. To learn more about how Nathan, Derek, and the rest of our rare disease team can help support your rare disease clinical trial, contact us today.
