Pfizer, Novartis sign on to accelerate gene therapies for rare diseases with US agencies

Gene therapy
The Bespoke Gene Therapy Consortium will optimize and streamline the development process of gene therapies for rare diseases to help fill the unmet need. (LuckyStep48/Getty Images)

A cadre of big and small biotechs and pharmas, plus nonprofit organizations, have signed on to a new U.S. initiative to go after gene therapies for rare diseases.

Called the Bespoke Gene Therapy Consortium, or BGTC, the initiative is headed up by the FDA and the National Institutes of Health (NIH) and is designed to accelerate development of gene therapies. The agencies are putting up $76 million over five years.

On the list of companies are Biogen, Johnson & Johnson’s Janssen pharmaceutical unit, Pfizer, the Novartis Institutes for BioMedical Research, Regenxbio, Spark Therapeutics, Takeda, Taysha Gene Therapies, Thermo Fisher Scientific and Ultragenyx. The Alliance for Regenerative Medicine, the American Society of Gene and Cell Therapy and other groups are also involved.

While the diseases are rare, the collective group could make an impact on conditions that affect 30 million Americans. Just two rare diseases out of the 7,000 recognized have approved gene therapies: Novartis’ Zolgensma in spinal muscular atrophy and Spark’s Luxturna for RPE65 mutation-associated retinal dystrophy.

The BGTC, which is part of the NIH Accelerating Medicines Partnership program, will optimize and streamline the development process for gene therapies for rare diseases to help fill the unmet need.

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“Most rare diseases are caused by a defect in a single gene that could potentially be targeted with a customized or ‘bespoke’ therapy that corrects or replaces the defective gene,” said NIH Director Francis Collins, M.D., Ph.D. “There are now significant opportunities to improve the complex development process for gene therapies that would accelerate scientific progress and, most importantly, provide benefit to patients by increasing the number of effective gene therapies.”

Developing gene therapies is a highly complex process that takes significant time and resources. Companies tend to tackle one disease at a time, and the right tools can be hard to come by. There’s also no standardization across the field, the FDA release said.

“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 Rutter, Ph.D., acting director of NIH’s National Center for Advancing Translational Sciences.

If the companies can come together and standardize a therapeutic development model with a common gene therapy delivery technique—also known as a vector—the process could be more efficient. A main goal of the BGTC will be to better understand the basic biology of the adeno-associated virus vector that delivers gene therapies and develop a standard test to aid manufacturing and enhance therapeutic benefits.

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“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,” Rutter added.

The initiative will support four to six clinical trials focused on rare, single-gene diseases or commercial programs that are further along in development that could be scaled up quickly. Streamlining the regulatory process will also be part of the BGTC.

There’s plenty of opportunity for companies that do get a rare disease gene therapy across the finish line. Novartis just reported $375 million in sales for Zolgensma for the third quarter amid steady sales in the U.S. and as the therapy became more available across Europe.

Biogen, Novartis and many of the companies on the list all have pipelines full of gene therapies that could meet the rare disease criteria. But the path has been bumpy, with many failures and safety concerns sidelining promising medicines. An FDA advisory committee recently reviewed safety of these therapies and questioned the best animal models to use in early research to ensure human safety once testing advances.