A new era for gene therapy and rare diseases: Findings from the World Orphan Drug Congress USA 2021

Written by Hunter Clark & Dana Franznick on Thursday 16th September 2021

The World Orphan Drug Congress took place just outside Washington, DC, on August 25-27, 2021.  Leaders in the biotechnology and pharmaceutical industry, regulators, patient advocacy groups, and others convened in person and virtually to discuss advances in rare diseases and gene therapy. The theme of this year’s meeting was “building a community of rare disease stakeholders to advance orphan drug development.”

It is clear from attending WODC 2021 that our industry has entered the era of gene therapy 2.0. Advances in gene therapy technology are well underway as we are now seeing heightened investment in the areas of in vivo and ex vivo following the initial wave (i.e., gene therapy 1.0) of lentiviral (lenti) and adeno-associated viruses (AAV). That is not to say that lenti and AAV have become obsolete but rather to point out the pace at which technological advancement is occurring in rare and orphan disease areas. Thursday’s keynote, “Treating rare diseases: Future of innovation and development for cell and gene therapies,” suggested that we should expect to see biotech and pharma use cell and gene therapy to target both increasingly complex rare diseases and more common diseases as safety concerns are addressed.

Innovation accelerators

Through innovations like augmented/artificial intelligence, it is the hope that therapies can be identified more quickly than through traditional methods. Currently there are over 200 drugs for rare diseases in the phase 2/3 pipeline, and it is possible that 25 may get approved by the Food and Drug Administration (FDA) by 2026. The Rare Disease Cures Accelerator, established by the FDA to support rare disease innovation and development, has received $10 million in US federal dollars toward investment and innovation in rare disease. The money will be used for grants and endpoint development.

To address the volume of new trials for typically small numbers of enrolled patients, keynote speakers from the National Institutes of Health (NIH) discussed the possibility of basket trials for therapies with shared molecular etiologies. This clinical trial design model would include within the same trial multiple types of rare or genetic diseases that may use the same gene therapy platform or vector, for example. Janet Woodcock of the FDA also encouraged basket trials that implement master protocols that serve to standardize trial protocols to speed the review process. She suggested that efficacy endpoints in clinical trials may benefit from predefined composite endpoints because the small numbers of patients in rare disease clinical trials may not have enough power to show significance. Patient advocacy groups stressed, however, that primary efficacy endpoints set forth by industry or regulators are not necessarily the important endpoints from a patient perspective.

To address these issues, the Bespoke Gene Therapy Consortium, a public and private partnership including the NIH, FDA, private and nonprofit companies, was created. Its goal is to foster innovation by increasing accessibility of adeno-associated virus technology, accelerate preclinical testing, and broaden the availability of scientific findings.

Reimbursement and HTA (health technology assessment)

From an Evidence & Access standpoint, the question becomes, is our system equipped to reimburse innovators and ensure access to patients in need? If you listened to the various speakers at the WODC, I think the answer to that question remains uncertain. Common strategies shared included proactively working with regulators to address potential issues, engaging payer stakeholders early to provide education on patient pathways and the current costs associated with misdiagnosis and investing in patient registries to support long-term follow-up data collection. While those strategies will certainly help, there was also a consensus that current HTA is not applicable to the rare and orphan community and that serious reform needs to happen to ensure patient access to novel medicines. With traditional outcomes measures flipped on their head, speakers felt HTA bodies need to rethink how they assess treatments for rare diseases. Now more than ever, manufacturers will need to find novel ways to demonstrate the value of new medicines.

Maximize access

Given these advances in rare and genetically based disease research and associated drug commercialization, OPEN Health continues to expand its role as strategic consultants to new biotechnology companies that may not have the infrastructure within their medical affairs department to develop scientific and strategic communication and tactical plans. We continue to explore new ways to develop and disseminate science-focused educational materials to maximize their impact on patient and payer audiences and facilitate access to the innovative, transformative medicines of tomorrow.


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