Courtney Silverthorn, Ph.D., Associate Vice President for Science Partnerships at the Foundation for the National Institutes of Health (FNIH), discusses the recent announcement that the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium (AMP BGTC) has selected eight rare diseases for its clinical trial portfolio. 


The eight diseases are:

  • Charcot-Marie-Tooth disease type 4J
  • Congenital Hereditary Endothelial Dystrophy
  • Morquio A Syndrome
  • Multiple Sulfatase Deficiency
  • NPHP5 Retinal Degeneration
  • Propionic Acidemia (PCCB)
  • Retinitis pigmentosa 45
  • Spastic paraplegia 50

The program will focus on developing preclinical and early clinical studies to streamline the regulatory approval process for adeno-associated virus (AAV) vector gene therapies. This includes establishing minimum standards for manufacturing, product analytical testing, and pre-clinical testing that will eventually be available to researchers. This information will be free, providing researchers with a “development playbook”.

The eight diseases were selected following an extensive review by a panel of gene therapy experts using the BGTC’s established criteria. These criteria include, but are not limited to, the adequacy of the gene for insertion into an AAV vector, sufficient proof of concept and natural history data, the existence of an established disease model, a lack of available treatment, and an overall readiness for entering into a clinical trial.

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