Gene Therapy Research and Rare Diseases
Amy Raymond
Amy Raymond
Director of Therapeutic Expertise, Center for Rare Diseases

Decades of genetic research and intensive methods development are converging in a revolutionary shift in medicine, with interest in gene therapy soaring among drug developers. This is great news for rare disease patient communities, as 8 out of any 10 rare diseases are caused by a faulty gene. With several gene therapies now approved by US and EU regulators, including those for rare genetics diseases, we are seeing the hope and promise of the technology translated into changing lives, spurring further investment and innovation.

Gene therapy trials by year:

Just as these novel treatments have the possibility to change lives unlike anything we’ve ever seen before, their development requires likewise novel approaches for drug developers to consider and resolve:

  • Gene delivery technology
  • Gene transfer mechanisms
  • Unique manufacturing challenges
  • Complex and rapidly-evolving regulatory landscape
  • Patient recruitment, retention, and long-term follow up ramifications

In addition, it is critical that we recognize and effectively address the distinctive challenges clinical research sites face in executing these exciting and ground-breaking gene therapy clinical trials. In the US this includes the transition to site-based or central Institutional Biosafety Committees, as well as navigating incomplete guidance from NIH, FDA, CDC regarding pharmaceutical application of gene therapy, including minimization of exposure and reduction of risk for clinical research site personnel. While guidances are more robust in the EU region, our clinical research colleagues in these clinics face the hurdles of complex regulations and administration requirements related to Advanced Medicinal Therapy Products (ATMPs) and Genetically Modified Organisms (GMOs).

Focus on the patient

By the US definition, a rare disease is one which affects less than 200,000 people, but when you consider that there are an estimated 7,000 rare diseases, impacting 6-8% of the global population, you realize that’s a very large group: approximately 350 million people. The overwhelming majority of these rare diseases (95%) have not even one FDA-approved treatment. We are all grateful to the countless researchers around the globe working tirelessly to understand what is causing these diseases and working towards treatments.

The proverb “If you want to go fast, go alone. If you want to go far, go together” applies to a variety of contexts, including drug development. Our industry is growing to understand that patients, the future consumers of all treatments we develop, are our partners on this journey. We are delighted and inspired to see these early successes in gene therapy but remain clear-eyed in how very far we have to go, and the need to work together to get there are quickly as possible. Rare disease patients are waiting.

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