by The promise of gene therapy is huge for families dealing with rare genetic disorders. Such treatments offer the possibility of one-time cures.
But families and researchers worry that such therapies remain elusive.
Altogether, about 350 million people worldwide suffer from rare diseases, the majority of which are genetic diseases. But each of the 7,000 individual disorders affects perhaps a few million people or less. So there is little commercial incentive to develop or bring to market these one-off therapies to fix faulty genes or replace them with healthy ones.
The Associated Press explored what this means for families, scientists and the new field of gene therapy.
Here are the key takeaways from the AP report.
Families are frustrated, and some try to raise their own funds.
Camden Alderman was diagnosed as a baby with a rare disease called Wiskott-Aldrich syndrome, which is caused by a mutated gene on the X chromosome. It mainly affects boys – up to 10 in a million – and can cause frequent infections, eczema and excessive bleeding.
When he was a toddler, doctors removed his spleen because of uncontrolled bleeding. As a young boy, he ended up in the hospital many times and was told he couldn’t play baseball.
His mother Robin Alderman recalls one doctor saying: “Basically, your son’s only chance for a cure is gene therapy.”
He also told her that researchers were not accepting US residents at the time into a clinical trial for the treatment, which “broke my heart,” she said. There is no clinical trial it can participate in yet, and London-based Orchard Therapeutics stopped investing in an experimental treatment for the condition in 2022.
Lacey Henderson’s 5-year-old daughter Estella has childhood alternating hemiplegia, a neurological condition that affects 300 people in the United States. , Henderson said. Medicines can relieve symptoms, but there is no cure.
Her Iowa family is raising money through GoFundMe and a website to develop gene therapy. They have brought in about $200,000.
“We have three different projects with different researchers,” Henderson said. “But the problem is that everything is underfunded.”
Financial disincentives can spoil the process.
The amount of work it takes to get from a laboratory to human testing and through the drug approval process is “extremely expensive,” said Dr. Donald Kohn, professor of microbiology, immunology and molecular genetics at the University of California, Los Angeles.
In the last few years, he said, the investment in gene therapy has decreased significantly.
“If you have to spend $20 million or $30 million to get approval and you have five or 10 patients a year, it’s hard to get a return on investment,” Kohn said. “So we have successful and safe therapies, but it’s the financial, economic aspects that are limiting them from being approved drugs.”
Ultimately, most biotech companies become public and must focus on shareholder profit, said Francois Vigneault, CEO of Seattle biotech Shape Therapeutics.
“The board is what gets in the way; they want to maximize the gain,” said Vigneault, whose company is privately held. “That’s just greed. That’s just an incentive that’s misaligned between the structure of corporate companies and what we should be doing that’s good for the world.”
Scientists, non-profits and patient groups are working towards solutions.
In the United States, for example, the Bespoke Therapy Consortium was organized by the National Institutes of Health and includes the FDA, various NIH institutes and several drug companies and non-profits. Its goals include supporting a handful of clinical trials and streamlining regulatory processes.
Researchers are trying to tackle the problem scientifically. Dr. Anna Greka that the Broad Institute of MIT and Harvard has launched an effort to look at the commonalities behind the different conditions – or nodes, which can be compared to branches coming together at the trunk of a tree. Fixing the nodes with gene therapies or other treatments, rather than certain “misprints” in DNA responsible for a single disorder, could tackle multiple diseases at once.
“What this does is it increases the number of patients who can benefit from the therapy,” said Broad member Greka.
Still, scientists say these efforts do not negate the larger financial quandary of rare disease therapies, and it may be some time before such gene therapies are available to patients worldwide. deep
“This is a huge challenge, and I’m not entirely sure we’ll be able to overcome it,” said Claire Booth from University College London. “But we have to try because we’ve spent years and millions doing these transformative treatments. And if we don’t try, it feels like the end of an era.”
___
The Associated Press Health and Science Section is supported by the Howard Hughes Medical Institute Science and Media Education Group. The AP is solely responsible for all matters.
