Rare Disease Day: A Call for Innovation in Pharmaceutical Development Marianne Henrion is R&D Site Director at Unither Pharmaceuticals since 2024. With over 25 years of experience in pharmaceutical development, she has held strategic positions at Ethypharm, Famar, and Catalent, contributing to innovation and bringing therapeutic solutions to the international market. Each year, Rare Disease Day reminds us of how essential innovation is to address the needs of the 300 million people affected by a rare disease. Behind this figure are patients and families facing complex medical journeys, late diagnoses, and often non-existent therapeutic solutions. The main challenges include: A lengthy and complex diagnostic process, with an average delay of 5 years in Europe and 18 months in France, leaving many patients without proper care for years. 70% of patients wait more than a year after their first consultation before receiving a confirmed diagnosis. Clinical trials that are difficult to conduct due to the small number of patients and their geographic dispersion, making recruitment particularly complex. Specific development capabilities required to design and manufacture treatments for diseases that, in 95% of cases, have no curative options. In the face of these challenges, innovation in biotechnology, formulation, and pharmaceutical production is essential to accelerate access to treatments and meet patient needs. A Collective Effort to Accelerate Innovation Developing a drug for a rare disease requires close collaboration between researchers, specialized biotech companies, industrial players, and health authorities. Academic laboratories play a key role in understanding the biological mechanisms behind these diseases. Biotechnology companies develop cutting-edge therapeutic approaches. Specialized manufacturers ensure the transition from development to patient access by managing regulatory and production constraints. This synergy is essential to turn scientific discoveries into tangible treatments. Ensuring Healthcare Accessibility for All At Unither Pharmaceuticals, our vision is clear: to make healthcare solutions accessible, improving and simplifying patients’ lives, including those affected by rare diseases. Innovation should not be hindered by the complexity of pharmaceutical development or unsuitable economic models. Instead, it should adapt to patient needs and explore new approaches, whether in gene therapies, novel drug formulations, or solutions facilitating treatment access. The Role of UDB within the Unither Group At Unither Développement Bordeaux (UDB), Unither Pharmaceuticals’ R&D center, we support pharmaceutical and biotech companies in developing new treatments. Specializing in liquid, semi-solid, and solid dosage forms, we can produce small batches, a key element for clinical trials and rare disease treatment commercialization. We cover the entire development cycle, from pre-formulation to galenic formulation, analytical development, method validation, and stability studies in compliance with international regulations, up to the production of preclinical and clinical batches. Additionally, UDB is accredited for the Research Tax Credit (CIR). Every breakthrough begins with a commitment to patients. On this Rare Disease Day, we honor the resilience of patients and their families and reaffirm our dedication to innovating for the development of new treatments. From research to commercialization, efforts continue to make these therapies accessible to those who need them most, ensuring that even the rarest diseases are not forgotten. Sources · Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database, European Journal of Human Genetics (2019) · Rare Diseases Info – Key Figures on Rare Diseases www.maladiesraresinfo.org/informer/information-generale-sur-les-maladies-rares/les-chiffres-clefs-des-maladies-rares.html · Eurordis – Screening rare diseases at birth! www.eurordis.org/publications/rb-nbs-survey-results/ · Alcimed – Clinical trials and rare diseases: What are the challenges? www.alcimed.com/fr/insights/essais-cliniques-maladies-rares-defis-2/
