bims-curels 2023-02-05 papers

Issue of 2023–02–05
three papers selected by
Cure Mito Foundation

Drug Discov Today. 2023 Jan 25. pii: S1359-6446(23)00025-9. [Epub ahead of print] 103509

Transforming patient engagement in clinical trials: Moving from a transactional relationship to human-centered care.

Engagement with patients during the clinical trial process encompasses all of the interactions that those running clinical trials have with the participants. The essence of patient engagement is to ensure patients feel supported, connected and empowered before, during and after the clinical trial process. There has been significant progress in the past few years and, while there is still a long way to go, 92% of clinical trial executives believe that clinical trials are now more patient-centric than ever.

Keywords: CROs; Clinical Trials; Drug development; Patient centricity; Patient data; Patient engagement

DOI: https://doi.org/10.1016/j.drudis.2023.103509

Singapore Med J. 2023 Jan;64(1): 7-16

Therapeutics in paediatric genetic diseases: Current and future landscape.

Ai Ling Koh, Saumya Shekhar Jamuar.

There are more than 7,000 paediatric genetic diseases (PGDs) but less than 5% have treatment options. Treatment strategies targeting different levels of the biological process of the disease have led to optimal health outcomes in a subset of patients with PGDs, where treatment is available. In the past 3 decades, there has been rapid advancement in the development of novel therapies, including gene therapy, for many PGDs. The therapeutic success of treatment relies heavily on knowledge of the genetic basis and the disease mechanism. Specifically, gene therapy has been shown to be effective in various clinical trials, and indeed, these trials have led to regulatory approvals, paving the way for gene therapies for other types of PGDs. In this review, we provide an overview of the treatment strategies and focus on some of the recent advancements in therapeutics for PGDs.

Keywords: Antisense oligonucleotide; gene therapy; paediatric genetic diseases; therapeutics

DOI: https://doi.org/10.4103/singaporemedj.SMJ-2021-376

J Biopharm Stat. 2023 Jan 29. 1-8

Case study using RWD in the context of a pivotal trial for regulatory approval in a rare disease.

Paul O'Connell, Antonia Ridolfi, Nathalie Fretault.

Rare disorders impact millions of children worldwide, and developing new medicines in this setting is associated with multiple challenges. In this paper, we share a successful story of how real-world data (RWD) were leveraged to accelerate evidence generation and patient access to a life-changing therapy in patients with severe manifestations of PIK3CA-related overgrowth spectrum who require systemic therapy. Despite all the existing regulatory guidelines of considering of real-world evidence (RWE), there is limited regulatory precedent of the use of this framework in support of a new indication. Thus, our case study illustrates design innovations based on the use of a compassionate use program, primarily in children, as a RWD source for approval of a new therapy in a rare disorder. We highlight the systematic considerations and mitigation of potential sources of bias in order to transform the data into actionable evidence. Our experience shows that RWE can be successfully used with appropriate study planning and mitigation in the context of a rare disorder with a high unmet medical need. Some lessons learned from this case study can benefit therapeutic development in rare disorders.

Keywords: Accelerated approval; rare disorder; real-world data (RWD); real-world evidence (RWE)

DOI: https://doi.org/10.1080/10543406.2023.2170406