Overview
Currently, technological developments are offering the hope of new therapies for individuals with rare disease at a pace that has the potential for significantly challenging the existing infrastructure for efficient, effective, and equitable delivery. It is important therefore, to plan and be prepared for these challenges. Changes need to be implemented to improve the process of getting more treatments to more patients, more quickly.

Gene-targeted therapies have the ability to provide treatments to multiple disorders rapidly. Gene-targeted therapeutics, such as virus-mediated gene replacement, somatic genome editing and oligonucleotide therapies, directly target the causative molecular defect in genetic diseases. For example, recently discovered gene editing approaches can, in principle, correct approximately 90% of all human disease-causing mutations. As such, these technologies are fundamentally different from most previously developed therapies for individual diseases, in that they are therapeutic platforms that can be developed for individual patients based solely on knowledge of disease-causing mutations, independent of clinical disease. There is also the potential to utilize common vectors and platforms to treat multiple disorders caused by different disease-causing mutations in the same gene or in different genes, affording economies of scale.

In contrast to the broad therapeutic potential of gene-targeted therapies across multiple diseases, the US healthcare system, biomedical research industry, and public health infrastructure, including newborn screening, are almost entirely based upon screening for, diagnosis of, and therapy for individual diseases. Clinicians, patients and families may also not be aware that gene-targeted therapies are available for their individually rare disorder. In addition, therapies are generally believed to be most effective in the early stages of a disorder or in the pre-symptomatic period before irreversible consequences of the disease have manifested, and the timing of therapeutics delivery is often critical to their success.   

 To ensure that gene-targeted therapies move beyond the research environment to a public health environment it is it is essential that pre-clinical research, clinical research, and dissemination of knowledge leading to appropriate clinical implementation be made available in an effective, efficient, and equitable manner. NIH invites stakeholders throughout the scientific research, advocacy, clinical practice, industry, and lay communities, including the general public, to attend the 3-day meeting and submit comments or questions relating to the effective, efficient and equitable distribution of gene-targeted therapies.

Meeting Structure
Working group members, from academia, industry, and government in multiple fields, have been meeting since February 2021 to identify roadblocks and possible solutions. The working groups will be presenting across the three-day meeting. 

June 3rd will focus on defining:

  • Who are the individuals that could benefit from gene-targeted therapies – now and in the future? 
  • What novel approaches are needed to enable development of gene-targeted therapies for all genetic rare diseases – now and in the future?
  • When is the optimal time to identify individuals who could benefit from gene-targeted therapies (e.g., newborn screening)?

June 10th will focus on identifying existing systems that can be leveraged or adapted to bring treatments to the individuals who can benefit from them.

June 17th will focus on identifying gaps that need to be addressed to facilitate the effective dissemination of treatments in an equitable manner.


National Center for Advancing Translational Sciences