Currently, there are about 7000 identified rare diseases, together affecting 10% of the
population. However, fewer than 6% of all rare diseases have an approved treatment option …

Highlights•Fifty domain experts provide their perspectives on clinical trial setup and
conduct.•Protocol development, site contracting, and patient access are on the critical path …

Introduction Biomedical progress has facilitated breakthrough advanced neurotherapeutic
interventions, whose potential to improve outcomes in rare neurological diseases has …

Following the 2017 approval of a first spinal muscular atrophy (SMA) treatment by the
European Medicines Agency, SMA Europe launched a Europe-wide survey with the goal of …

Building on an initiative to enhance clinical trial participation involving the Society for Neuro-
Oncology, the Response Assessment in Neuro-Oncology Working Group, patient advocacy …

The digital revolution in healthcare, amplified by the COVID-19 pandemic and artificial
intelligence (AI) advances, has led to a surge in the development of digital technologies …

Background The design of clinical trials in rare diseases is often complicated by a lack of
real-world translational knowledge. Fibrodysplasia ossificans progressiva (FOP) is an ultra …

Background Rare diseases may be life-threatening or chronically debilitating conditions.
Patient care needs are often complex and challenging to coordinate and deliver effectively …

Background The patient voice is becoming increasingly prominent across all stages of
therapeutic innovation. It pervades research domains from funding and recruitment, to …

Introduction The evaluation of the post-marketing safety profile of drugs is a continuous
monitoring process for approved and marketed medicines and it is crucial for detecting new …