“Every day is a big day.” This is what Nancy Poon, a longtime runner, tells about a life now spent in a wheelchair. She was diagnosed in December 2018 with Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease.
She enjoys the swims that she can still do two weeks a month when she isn’t on drug infusions – even though she can no longer handle a floating kick and has to rely on her arms to pull her into the water . She’s even happy to be able to help prepare meals and take care of dirty clothes.
“Who thought you might like to do laundry? But it’s something I can still do,” said Poon, 64, of Wakefield, Rhode Island.
Self-pacing is Poon’s way of staying positive about an illness that she describes as “worse than any illness you might have.” It’s a slow, slow demise where you lose parts of yourself ”.
Poon and the roughly 15,000 other ALS patients in the United States have more to do with this year. Patients and researchers cite three positive developments:
- A new drug – developed in part with money from the Ice Bucket Challenge 2014 – increased average patient survival in a seven-and-a-half-month clinical trial.
- First-ever clinical trial is testing multiple treatments for ALS at once.
- Record levels of federal research funding are expected this year.
After decades of clinical trials for treatments that have resulted in shattered dreams, Poon and other ALS patients are hoping that Amylyx’s AMX0035, which won a $ 2.2 million grant from the Ice Bucket Challenge of $ 111 million, will be approved by the Food and Drug Administration.
This is the drug that added seven months to patients ‘lives – which is significant given that patients’ life expectancies are between two and five years.
The results of AMX0035’s Phase 2 trial, which tests the efficacy and side effects of a drug, were so promising that the ALS community is pushing the FDA to speed up its approval. The ALS Association has asked the FDA to skip a Phase 3 trial – possibly the only time the Association has done this, said Neil Thakur, ALS Association Chief of Mission.
But like everything else with the treatment of ALS, it’s a long way off. Despite steady pressure, the FDA rarely approves drugs without completing a large Phase 3 trial.
In late January, the Margolis Center for Health Policy at Duke University held a two-day public meeting with FDA officials and other experts to discuss ways to improve research and make clinical trials on the More innovative SLAs.
Dr Mark McClellan, former FDA commissioner who heads the Duke Center, said the meeting focused on the FDA’s commitment to do more research to get evidence faster, including directly from patients and physicians. caregivers.
“It gave me hope,” McClellan said. “This effort should help advance more promising treatments in good clinical studies.”
Still, McClellan warned, “There is no guarantee that a truly effective treatment is just around the corner.”
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ALS patients push for fast track drug approval
ALS is a priority at the FDA, said Dr. Janet Woodcock, director of the FDA’s Center for Drug Evaluation and Research and now acting commissioner of the FDA.
When the FDA receives a new request for a drug to treat advanced cancers or other diseases like ALS that progress rapidly, Woodcock told USA TODAY, the agency can approve it quickly – based on results, safety. and the company’s ability to manufacture it.
She said it can be done if there is “a huge unmet need and a compelling outcome.” She would not comment on specific drugs.
In a statement, Amylyx co-CEOs Joshua Cohen and Justin Klee said the drugmaker was “in talks with the FDA on approval and expanded access pathways.”
“We understand that patients with ALS don’t have time to wait,” they said.
“ The value of good, solid proof ”
Despite the pressure to speed up approval, there’s a reason the drugs have to undergo large Phase 3 trials: They find problems that earlier and smaller trials don’t.
A 2017 report from the FDA looked at 22 drugs that had very different results in phase 3 compared to phase 2. It concluded that phase 3 trials “may generate critical evidence,” noting that they have found phase 3 failures in terms of safety and efficacy, even for drugs approved for other conditions.
Dr. Joel Lexchin, professor emeritus of health policy at York University in Toronto, has treated patients with ALS and others with rare diseases as an emergency physician. He said he had “a lot of sympathy for these people, but at the same time I understand the value of good, solid evidence before rushing into the use of new drugs.”
He cites high-dose chemotherapy and stem cell transplants given to more than 40,000 women in the 1990s based on preliminary evidence that it could cure their metastatic breast cancer. The treatment turned out to have no benefit and “a lot of women suffered in the process,” he said.
“We hear a lot about the potential benefits in the early stages of clinical development, but we don’t hear a lot about the harms that they can also show,” said Lexchin, co-author of a 2016 report in the journal British Medical Officer BMJ warning the United States. and European measures to approve drugs with less data.
ALS patients have grown used to being disappointed. Brainstorm’s NurOwn, which uses a patient’s stem cells, has had promising Phase 2 results, butother research has shownthe treatment was found to slow the progression in about a third of the patients – this is not a statistically significant difference compared to the placebo group.
Last week, Brainstorm announced that the FDA told the company that its initial review of NurOwn Phase 3 data was not sufficient to approve it.
23-year-old footballer diagnosed
About 5,000 people are diagnosed with ALS each year. Most people develop ALS between the ages of 40 and 70, with 55 being the average age at diagnosis. There is no cure. And the disease is ruthless.
Ryan, May 23, from Huntsville, Utah, began to experience symptoms while on his honeymoon in September 2018. It started with twitching in his legs that eventually spread throughout his body. Within months, the former soccer player was diagnosed with ALS and signed up for the NurOwn trial.
May is the youngest neurologist patient Dr. Namita Goyal has ever diagnosed. He is in a wheelchair and uses a feeding tube, with limited use of his arms and no use of his legs.
Unwilling to accept the rapid progression from “onset of symptoms to death,” Goyal said she chose to specialize in treatments for ALS.
“It was something that immediately caught my heart,” she said. “Going through this with a patient, not to mention hundreds and hundreds, breaks my heart.”
Goyal has recruited patients from approximately 30 clinical trials over the years. After starting out at Massachusetts General Hospital, she is now at the University of California, Irvine, where she has moved to allow better access to clinical trials on the West Coast.
She remembers thinking, “There are so many scientific advances in medicine, how is it possible that a terminal disease does not have an effective treatment to stop it or slow it down tremendously?”
More research on treatments for ALS
The pace of ALS research has accelerated. Thakur estimates that there are around 80 ongoing clinical trials for treatments for ALS around the world.
That’s roughly the same number of Phase 2 or 3 ALS trials completed, paused, or suspended from 2007 to 2018, Goyal calculated in a study published in the journal Muscle & Nerve in January 2020. Over the course of During this period, she said, only one treatment was approved by the FDA to slow the progression of ALS: Edaravone in 2017.
Stacy Lindborg, Executive Vice President of Brainstorm and Head of Global Clinical Research, has a personal connection to ALS. She saw her beloved uncle, Gerry Gunnin, suffer and die from it in 2003.
“It’s a brutal illness. It’s always progressive, “she said.” Your mental capacity is completely intact, but your body is dying around you. … Swallowing, breathing and rolling around in bed is gradually taken away from you, and you are fully aware of everything that is going on. . ”
One European country per year on retirement
Poon read neurosurgeon Paul Kalanithi’s memoir on ALS, “When Breath Becomes Air,” after retiring in June 2017 after a career as an elementary school teacher in Connecticut and Rhode Island.
Almost immediately after her retirement, the woman who had completed a marathon and several sprint triathlons started tripping while running.
Poon tried to participate in the NurOwn clinical trial, but the disease was progressing too slowly for her to qualify. She is now participating in Massachusetts General’s Healey ALS Platform trial which includes four drugs, reducing the risk of patients receiving a placebo.
No more plans to retire with her husband to rent a house for two to three months each year in a different country. She saw Spain and France in the summer of 2019 in a wheelchair, took a charter sailboat trip to the Caribbean shortly after her diagnosis, and became an active member of the Rhode Island ALS community.
Poon’s 85 friends and family made up the largest group at the ALS Rhode Island Gala in 2019, and they raised tens of thousands of people to support ALS research.
“As horrible as this disease is, you realize how much you are loved by your family and friends and how much support you are,” said Poon. “Few people experience it in their lifetime.”
Woodcock, who credits the ALS community for his work with the FDA and the Ice Bucket Challenge, also sees hope.
“We are paying a lot of attention to ALS because there is hope on the horizon for neurodegenerative diseases,” said Woodcock, citing the approval of two drugs to treat spinal muscular atrophy in infants and children. “There was a fairly long period of drought.”
Jayne O’Donnell is on Twitter @JayneODonnell and Facebook @jayneodonn.