The promise of gene therapy is great for families dealing with rare genetic disorders. Such treatments allow for one-time treatment.
But families and researchers worry that such treatments remain out of reach.
In total, about 350 million people worldwide suffer from rare diseases, most of which are genetic. But each of the 7,000 individual disorders affects perhaps a few in a million people or fewer. So there is little commercial incentive to develop or market these single-use treatments to fix faulty genes or replace them with healthy ones.
The Associated Press explored what this means for families, scientists and the fledgling field of gene therapy.
Here are the key takeaways from the AP report.
Families are desperate and some are trying to raise funds.
Camden Alderman was diagnosed as an infant with a rare condition 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 people – and can cause frequent infections, eczema and excessive bleeding.
When he was a child, doctors removed his spleen because of uncontrollable bleeding. As a young boy, he was repeatedly injured in the hospital and told he could not play baseball.
“Basically, your son’s only chance for a cure is gene therapy,” his mother, Robin Alderman, recalled one doctor saying.
She also said that researchers at the time weren’t accepting US residents for the treatment in a clinical trial, which “just kind of broke my heart.” There are no clinical trials he can join yet, and London-based Orchard Therapeutics has stopped investing in an experimental treatment for the disease in 2022.
Lacey Henderson’s daughter, Stella, 5, has childhood intermittent hemiplegia, a neurological disease that affects 300 people in the U.S. Stella is cognitively delayed, has limited use of her hands, and has periods of Experiences that temporarily paralyzes part or all of his body. Henderson said. Medications can control symptoms, but there is no cure.
His family in Iowa 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 incentives can make this process difficult.
The amount of work it takes to get from the lab to a human trial and through the drug approval process is “extremely expensive,” said Dr. Donald Cohen, a professor of microbiology, immunology and molecular genetics at the University of California, Los Angeles.
Over the past two years, investment in gene therapy has largely dried up, he said.
“If you have to spend $20 or $30 million to get approval and you have five or 10 patients a year, it’s difficult to get a return on investment,” Cohen said. “So we have successful and safe treatments, but mostly financial and economic factors limit them from becoming approved drugs.”
“Eventually, most biotech companies go public and have to focus on shareholder returns,” said Francois Vigneault, CEO of Seattle-based biotech Shape Therapeutics.
“The board is what gets in the way. They are trying to maximize profits. “It’s just greed. It’s just a drive that’s out of sync between the corporate structure and what we need to do that’s good for the world.”
Scientists, nonprofits, and patient groups are working to find a solution.
For example, in the United States, the Custom Gene Therapy Consortium was organized by the National Institutes of Health Foundation and includes the FDA, various NIH institutes, and several pharmaceutical and non-profit companies. Its goals include supporting a handful of clinical trials and streamlining regulatory processes.
Researchers are trying to scientifically address this problem. Dr. Anna Gerka said the Broad Institute of MIT and Harvard has begun an effort to investigate the commonalities behind different conditions — or nodes that can be likened to branches that sit along the trunk of a tree. Fixing nodes with gene therapy or other treatments, rather than the specific “spelling mistakes” in DNA responsible for a disorder, could potentially address multiple diseases simultaneously.
“This will increase the number of patients who can benefit from this treatment,” said Greka, a Broad member.
However, scientists say these efforts do not negate the larger financial problem with rare disease treatments, and it may be some time before such gene therapies become available to patients worldwide.
“It’s a big challenge and I’m not entirely sure we can overcome it,” said Claire Booth of University College London. “But we have to because we’ve spent decades and millions developing these revolutionary treatments. And if we don’t try, it looks like the end of an era.”
___
The Associated Press Health and Science section is supported by the Howard Hughes Medical Institute’s Science and Education Media Group. AP is solely responsible for all content.
#Highlights #report #access #gene #therapy #rare #diseases