Toggle Main Menu Toggle Search

Open Access padlockePrints

Performing clinical drug trials in children with a rare disease

Lookup NU author(s): Victoria HedleyORCiD, Becca LearyORCiD, Dr Anando SenORCiD, Anna Irvin, Emma HeslopORCiD, Professor Volker StraubORCiD


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Over the past 50 years, the advancements in medical and health research have radically changed the epidemiology of health conditions in neonates, children and adolescents; and clinical research has on the whole, moved forward. However, large sections of the paediatric community remain vulnerable and underserved, by clinical research. One reason for this is the fact that most paediatric diseases are also rare diseases (i.e., they fit the EU definition of a rare condition, by affecting no more than 5 in 10000 individuals) and indeed the majority of conditions under this umbrella heading are in fact much rarer, affecting fewer than 1 in 100,000. Rare paediatric diseases incur particular challenges, both in terms of actually conducting clinical trials but also planning trials (and indeed, stimulating the preclinical research and knowledge generation necessary to embark on clinical trials in the first place). The paediatric regulation and Orphan regulation (covering rare diseases) were introduced to address the complexities in research and development of medicines specifically for children and for people living with a rare disease, respectively. The regulations have been reasonably effective, particularly in areas where adult and paediatric diseases overlap, driving the development of more paediatric medicines; however, challenges still remain, often exacerbated by the rarity of the diseases. These include issues around trial planning, the need for more innovative methodologies in smaller populations, significant delays in trial start up and recruitment, recruitment issues (due to small populations and the nature of the conditions), lack of endpoints and scarce data. This chapter will discuss some of the major challenges in delivering trials in paediatric rare diseases, whilst also assessing current and future solutions to address these.

Publication metadata

Author(s): Hedley V, Leary R, Sen A, Irvin A, Heslop E, Straub V

Editor(s): Elke Gasthuys; Mark Turner; Lien Dossche; Karel Allegaert

Publication type: Book Chapter

Publication status: In Press

Book Title: Essentials of Translational Pediatric Drug Development : From Past Needs to Future Opportunities

Year: 2024

Acceptance date: 10/03/2023

Publisher: Elsevier

Place Published: Amsterdam

Library holdings: Search Newcastle University Library for this item

ISBN: 9780323884594