FDA, NIH, and 15 Partners Advance Gene Therapy Development in Rare Diseases


A gene therapy development initiative from the FDA, National Institute of Health and 15 other organizations may move CRISPR closer to use in patients with rare cancers.

The FDA, the National Institutes of Health (NIH), and 15 other organizations have joined forces to accelerate the development of gene therapies to make them available to American patients with rare diseases, a population of about 30 million, according to a press release issued by the FDA.

The groups plan to achieve their goal with help from the Bespoke Gene Therapy Consortium (BGTC), a newly implemented part of the NIH Accelerating Medicines Partnership (AMP) program that is managed by the Foundation for the National Institutes of Health. The goal is to optimize and streamline the development process for gene therapies in an effort to fill unmet medical needs for the treatment of the rare disease patient population.

“By leveraging on experience with a platform technology and by standardizing processes, gene therapy product development can be accelerated to allow more timely access to promising new therapies for patients who need them most,” said Peter Marks, MD, PhD, director of the FDA’s Center for Biologics Evaluation and Research, in a press release. “FDA is committed to developing a regulatory paradigm that can advance gene therapies to meet the needs of patients with rare diseases.”

In the cancer field, gene therapies like clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR-Cas9), a novel gene-editing technology, have shown promise in hematologic malignancies. There is also preclinical evidence suggesting that CRISPR-Cas9 can improve the potency of chimeric antigen receptor (CAR) T-cell therapies, a drug class that has received a plethora of FDA approvals for the treatment of various hematologic malignancies.

Michel Sadelain, MD, PhD

Michel Sadelain, MD, PhD

“This announcement reflects the vast potential of genetic interventions, which hold great promise for the treatment of cancer, genetics and other disorders, as well as regenerative medicine,” Michel Sadelain, MD, PhD, the director for the Center for Cell Engineering; Stephen and Barbara Friedman Chair at Memorial Sloan Kettering Cancer Center (MSK), in an interview with Targeted Oncology™.

Sadelain led MSK in becoming the first cancer research institution to use CRISPR technology to deliver the CAR gene to a precise location within the genome. The research conducted at MSK showed that CAR T cells created with CRISPR in preclinical mouse models could lead to safer and more effective agents for use in human patients.

Regarding ongoing research of CRISPR in the cancer field, Sadelain stated: “The focus on safety underscores the belief that genetics will be broadly used, and also reflects the recent emergence of new engineering tools, for genome editing and in vivo delivery in particular. There are recent discoveries and a lot of molecular refinements that still need to be invented and developed. These new tools should be thoughtfully and rigorously deployed, like any other new drug.”

Researchers at BGTC will evaluate the biological and mechanistic steps needed to produce adeno-associated virus, which is a common gene delivery vector, and study how the vector is delivered to human cell and how therapeutic genes are activated in target cells. These steps are expected to improve efficiency for manufacturing gene therapies. In addition, the program will develop a series anaptyctic tests for manufacturing improvement.

To address gene therapy development from a clinical standpoint, BGTC will fund 4 to 6 clinical trials in the rare disease spectrum and explore ways to improve the regulatory process for these gene therapies once positive data are reported.

“Rare diseases affect 25 to 30 million Americans, but because any given rare disorder affects so few patients, companies often are reluctant or unable to invest the years of research and millions of dollars necessary to develop, test and bring individualized gene therapy treatments for a single disease to market,” said Joni L. Rutter, PhD, acting director of NIH’s National Center for Advancing Translational Sciences, in a the press release. “The BGTC aims to make it easier, faster and less expensive to pursue bespoke gene therapies in order to incentivize more companies to invest in this space and bring treatments to patients.”


1. FDA, NIH, and 15 private organizations join forces to increase effective gene therapies for rare diseases. New release. FDA. October 27, 2021. Accessed October 28, 2021. https://bit.ly/2ZsKxRthttps://bit.ly/2ZsKxRt

2. Eyquen J, Mansilla-Soto J, Giavridis T, et al. Targeting a CAR to the TRAC locus with CRISPR/Cas9 enhances tumour rejection. Nature. 2017;543(7643):113-117. doi: 10.1038/nature21405

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