Targeting shared molecular etiologies to accelerate drug development for rare diseases

Rare diseases affect over 400 million people worldwide and less than 5% of rare diseases have an approved treatment. Fortunately, the number of underlying disease etiologies is far less than the number of diseases, because many rare diseases share a common molecular etiology. Moreover, many of these shared molecular etiologies are therapeutically actionable. Grouping rare disease patients for clinical trials based on the underlying molecular etiology, rather than the traditional, symptom-based definition of disease, has the potential to greatly increase the number of patients gaining access to clinical trials. Basket clinical trials based on a shared molecular drug target have become common in the field of oncology and have been accepted by regulatory agencies as a basis for drug approvals. Implementation of basket clinical trials in the field of rare diseases is seen by multiple stakeholders-patients, researchers, clinicians, industry, regulators, and funders-as a solution to accelerate the identification of new therapies and address patient's unmet needs.

Automated summary

Rare diseases affect a large number of people globally, but very few have approved treatments. Many rare diseases share common underlying molecular causes, which can be targeted for therapy. Grouping rare disease patients based on molecular causes rather than symptoms can increase access to clinical trials. Implementing basket clinical trials based on shared molecular targets has been successful in oncology and is seen as a solution to accelerate the development of new therapies for rare diseases.