Preparing for genetic N-of-1 treatments of patients with ultra-rare mutations


The N-of-1+ therapy approach is transforming the drug development landscape and has the potential to facilitate treatment of patients with ultra-rare diseases for whom no previous treatment has been developed. However, while the development of therapies specific to very few patients has a lot of promise, the largest challenge faced by these initiatives is that the drug development, regulatory frameworks and reimbursement systems were not designed for N-of-1+.


The overall objective of this Task Force is to connect different N-of-1+ efforts to reduce duplication, achieve global consensus and create a roadmap towards development and implementation of N-of-1+ treatment.

  1. To produce a reference document summarizing the current state-of-the art, to raise awareness of the N-of-1+ concepts and challenges with all stakeholders
  2. To identify the major challenges hampering N-of-1+ therapy development and timely patient access, in order to allow for development of proposed solutions and create a better opportunity for strategic planning and delivery of N-of-1 therapies


Assembly of the Task Force Group in Q1, 2023.


The TSC is specifically looking for members to contribute to this Task Force with the following qualities and expertise:

  • Scientists/Clinicians with experience with N-of-1 treatment development or those working in the ultra-rare field
  • Researchers with experience in personalized or core outcome measure development, including digital / software options
  • Patient Advocates
  • Regulators
  • Public or private rare disease research funders
  • Industry developers with expertise or interest in N-of-1 treatment, in particular from a platform technology basis
  • Those working in ultra-rare disease reimbursement
  • Methodologists (including those with experience of statistic modelling in an N-of-1 setting)