In a hearing Feb. 29 in Washington, D.C. on legislation to support patients with rare diseases, Terence R. Flotte, MD, the Celia and Isaac Haidak Professor, executive deputy chancellor, provost and dean of the T.H. Chan School of Medicine, said, “The path from bench to bedside needs to be faster than it is now.”
Dean Flotte, who serves as vice president of the American Society of Gene and Cell Therapy, was one of six witnesses from academic and clinical medicine, health policy, and patient advocacy groups to testify before the House Committee on Energy and Commerce’s Subcommittee on Health.
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The hearing was held on Rare Disease Day—the last day of February every year—and solicited testimony relevant to some 18 pieces of proposed legislation that would address development of treatment and patient access to care for the 30 million Americans affected by an estimated 10,000 known rare diseases, according to a hearing memorandum. Under the Orphan Drug Act of 1983, rare diseases are defined as diseases or conditions that affect fewer than 200,000 people in the United States.
Gene therapies, which address gene mutations that cause a disease, can provide life-changing treatment where previously there were few options for patients, Flotte told the committee.
In 1995, Flotte led the team of researchers to first use the adeno-associated virus (AAV) to deliver corrective genes to targeted sites in the body.
“If we all do what we can do, if industry does what they can do, if the foundations do what they can do, I am convinced we are going to beat most of these diseases in the end.”
In 2023, the pipeline of gene, cell and RNA therapies grew by 6 percent, resulting in 3,951 such therapies now in development. Currently, oncology and rare diseases are the top areas of gene therapy development.
Flotte said the ASGCT supports robust investment from the National Institutes of Health to ensure the U.S. remains a global leader in medical innovation.
But development challenges result from real-world limitations related to scientific knowledge, manufacturing, marketing approval, natural history data and drug development experience.
A significant barrier to the development of commercialized gene therapies for small populations of rare disease patients are the costs and logistics associated with product development, according to Flotte.
Asked by Rep. Anna Eshoo, a Democrat from California, whether children have benefitted from drugs made possible by the Pediatric Priority Review Voucher Program, which grants the sponsor of a product for a rare pediatric disease a voucher that can be redeemed to receive a priority review of a subsequent drug, Flotte answered, “They certainly have.”
Yet since 2021, more than 50 rare diseases have had their gene therapy programs abandoned because the risks for the biotechnology sector are too high. Flotte called for regulatory flexibility and incentives to accelerate private sector investments in rare disease therapies. He said the ASGCT’s goal is to work collaboratively with the Food and Drug Administration to create such a regulatory framework.
Flotte said he was excited about recent proofs of concept using AAV to deliver a form of RNA interference to silence a gene. He highlighted studies led by Neil Aronin, MD, the Higgins Family Professor in Neuroscience and professor of medicine, who was “pushing the envelope forward” for both gene-based and oligonucleotide-based therapies to target the pathology underlying Huntington’s disease.
“I have learned not to make any guarantees,” said Flotte in response to a question on how he might advise someone who has the gene mutation for a rare disease like Huntington’s. “But I will say there is reason to still have hope. If we all do what we can do, if industry does what they can do, if the foundations do what they can do, I am convinced we are going to beat most of these diseases in the end.”
