Edition of 15 March 2023

Manufacturers of high-risk medical devices can now apply to be a part of the European Medicines Agency’s new scientific advice pilot. Ten selected companies will receive guidance from the medical device expert panels on intended clinical development strategy and proposals for clinical investigation, with an end goal of fostering innovation and ensuring timely access to devices for patients. The pilot is expected to last approximately one year, and is prioritising certain types of medical devices. Among those being prioritised are devices for the treatment of rare diseases, and those for paediatric use.

Interested companies are invited to submit a letter of interest, with the first five applications to be selected in April. Small and medium-sized enterprises are particularly encouraged to apply.

A study has been published in Singapore Medical Journal providing an overview of the existing treatment strategies for paediatric genetic diseases (PGDs), including recent advancements.

There are a large number of PGDs, most of which do not have any available treatment. Of the treatments that do exist, many are aimed at the clinical phenotype rather than underlying mechanisms. However, a number of approaches targeting biological processes have managed to succeed. These include treatment of metabolic or biochemical abnormalities; dysfunctional proteins; and abnormal RNA.

The most promising development in the treatment of PGDs in recent years is gene therapy. Gene therapy strategies are wide-ranging and highly disease-dependent, but they all involve the alteration in some way of an individual’s genome. Such techniques have been revolutionary in the treatment and management of PGDs, and have allowed the focus of clinical genetics to begin to shift from diagnosis towards treatment.

Despite the recent advances in gene therapy, financial barriers remain a major barrier to many patients accessing treatment for PGDs. Moving forward, multistakeholder collaboration is needed to find innovative reimbursement solutions to mitigate these challenges and ensure new therapies remain accessible to all who need them.

A recent commentary published in the American Journal of Medical Genetics discusses the need to transition away from a “one disease at a time” model in newborn screening and drug development, and potential strategies for addressing this issue.

In recent years, significant success has been achieved in developing gene-targeted therapies for rare diseases. However, current approaches yield solutions for only one disease at a time. Given the large number of diseases without any available treatment, new techniques are needed which can discover drugs for multiple disorders in order to adequately address unmet medical needs.

One possible solution is reimagining conventional approaches to drug development. For preclinical research, this would mean adopting techniques such as in vitro rather than in vivo proof of concept. Clinical trial design could also evolve to use surrogate endpoints for accelerated or conditional approval, followed by rigorous post-approval studies using more traditional endpoints. Finally, drug development efforts as a whole could benefit from focusing on a specific modality or mutational mechanism rather than a specific disease. In this case, genetic diseases could be classified in therapeutic groups, which would allow for more efficient research methodologies overall.

The authors also discuss the importance of strengthening newborn screening for early diagnosis. They argue that implementing more molecular screening techniques would allow for the detection of a larger number of genetic disorders. This would in turn enable earlier intervention using gene-targeted therapies, leading to better overall patient outcomes.

Finally, there is a need for novel regulatory approaches to enable these changes and promote more innovative drug development for rare genetic diseases. Recently introduced programs and accelerated pathways for drug approval such as the FDA’s Fast Track pathway and Accelerating Rare Disease Cures program, and the EMA’s PRIME designation, are a promising start. However, further change is needed in order to fulfil the entirety of the unmet medical need for genetic diseases.