Parents become drug developers to save their children’s lives

Courtney Boggs, a member of the Cure Mito Foundation, with her husband Jacob and daughters Emma, ​​left, and Riley. Six-year-old Emma, ​​who has Leigh’s Syndrome, cannot walk unaided and uses a tube to feed. The foundation is working on a cure, but the company it has partnered with has suspended its work. (Randy Boggs)

Maggie Carmichael was not developing like other children. As a toddler, she could not walk and had a limited vocabulary for her age.

She was diagnosed with PMM2-CDG, life-threatening genetic mutations that cause abnormal enzyme activity and affect fewer than 1,000 people worldwide. Her parents, Holly and Dan Carmichael, raised $250,000 for scientists to screen existing drugs for a potential treatment, and in a single-patient trial with Maggie as a test subject, a drug showed promising results. . The girl stopped crashing her face while crawling, she started using a walker instead of her wheelchair, and her lexicon expanded.

The Carmichaels and their organization, Maggie’s Cure, could have outsourced the job to a biotech company. Instead, the family from Sturgis, Michigan, has formed a joint venture partnership with Perlara PBC, a San Francisco company that tries to identify new and existing drugs to treat rare diseases. The Mayo Clinic would later join as co-owner of Maggie’s Pearl.

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The company won approval last December for a 40-patient clinical trial that could one day lead to the FDA approving the drug for PMM2-CDG. It would also challenge what doctors told the Carmichaels about the prospects for treatment when Maggie was diagnosed at 9 months:

“Not a chance to snowball in hell.”

Half of all rare disease patients are children, and their families have long pushed for faster cures, usually by creating foundations that inject funds for research. If there are any promising discoveries, many entrust the work to biotech companies to develop treatments. Today, some families are creating their own biotech companies, acting as drug developers to find treatments for ultra-rare diseases that affect 1,000 patients or fewer.

But their chances are slim.

Only about 12% of drugs in clinical trials are FDA approved. And few biotech companies focus on rare diseases given the limited size of the patient market; 12% of clinical trials relate to rare diseases.

That means families aren’t likely to find a cure, let alone make a profit.

“If a drug were to be approved for a disease with 1,000 patients, the likelihood that there would be material benefits, I would say, is actually low,” said James Geraghty, a biotechnology board member and author of “Inside the Orphan”. Pharmaceutical revolution: the promise of patient-centric biotechnology. »

But the families say the cures, not the profits, drive them.

According to the National Institutes of Health, there are approximately 7,000 rare diseases, affecting nearly one in 10 Americans. A rare disease is generally considered to be one that affects fewer than 200,000 people in the United States at any given time. Only 30% of children with rare diseases will live to their 5th birthday.

About 95% of rare diseases have no FDA-approved treatment or therapy.

When a child is diagnosed, parents often quit their jobs and reorganize their lives to find treatment. Families will use their own money or raise funds to enter the arena. Dozens, if not hundreds, of nonprofit family foundations across the country are focusing on rare disease treatments amid the lack of public and private funding.

Drugmakers can charge exorbitant prices for rare disease drugs, so it can be very profitable to target rare diseases like cystic fibrosis, which affects up to 200,000 Americans. But the market is becoming much less attractive for ultra-rare diseases due to the much smaller patient pool.

“It’s the riskiest of the risky,” said Joe Panetta, CEO of Biocom California, a commercial life sciences group.

Drug regulations prohibit the Carmichaels from sharing Maggie’s current condition because of the clinical trial, but Maggie’s Pearl, assuming her drug gets FDA approval, says it’s meant to ensure the treatment is accessible to everyone with the disease.

The Carmichael family is helping pay for a clinical trial they say will cost between $3 million and $5 million. The family won’t say how much they’re contributing, but $2 million comes from a federal small business innovation research grant.

Holly Carmichael, chief operating officer of Maggie’s Pearl, says she is motivated to guide drug development while keeping prices lower than they otherwise would be. “We’re not a traditional biotech with shareholders who have certain profit thresholds,” she said.

The company is committed to reinvesting part of its profits in research and development. The rest would go to the owners of the business, including the Carmichael family.

In that way, Maggie’s Pearl is “like any other business,” said Ethan Perlstein, CEO of Maggie’s Pearl and Perlara, which counts Swiss pharmaceutical giant Novartis AG and entrepreneur Mark Cuban among its early investors. Convicted pharmaceutical executive Martin Shkreli has been bought out of his original stake in Perlstein’s company.

Last month, a Boston company called Vibe Biotechnology announced a cryptocurrency-based model to raise funds for rare disease drug development. Investors will have the power to vote on rare disease research proposals, and families of patients will have stakes in promising therapies.

“The challenge for rare diseases isn’t necessarily finding a cure — it’s funding it,” Alok Tayi, CEO and co-founder of Vibe Biotechnology, said in a statement. “For the first time, Vibe Bio is giving patients with rare and neglected diseases access to the funding and community support they need to develop cures and take ownership of the results.”

The company has launched two biotech companies in partnership with two foundations: Chelsea’s Hope, which focuses on Lafora disease, a deadly form of progressive myoclonic epilepsy, and NF2 BioSolutions, which hopes to accelerate a gene therapy for type neurofibromatosis. 2, which causes non-cancerous tumors to grow in the nervous system.

One of the reasons more families are going it alone is for greater control.

Typically, if research progresses sufficiently, families entrust biotechnology companies with bringing drugs to market. A company generally acquires intellectual property rights as part of assuming the financial risks associated with the development of such treatments. But if that company suspends the program, parents are left helpless and heartbroken.

The Cure Mito Foundation, along with other family foundations, funded research in Steven Gray’s lab at the University of Texas Southwestern Medical Center.

Taysha Gene Therapies, a company established in 2019, is committed to accelerating Gray’s research and easing the financial strain on families. In return, Taysha obtained potentially lucrative research licenses and controls the rights to these programs.

In March, Taysha announced she would cut 35% of her staff and put much of her portfolio on hold, reflecting an industry downturn. The break included Cure Mito’s campaign to develop a treatment for Leigh Syndrome, a neurogenerative disease that prevents some children from walking and breathing on their own.

Taysha’s break focused on Cure Mito Foundation member Courtney Boggs. Her daughter, Emma, ​​is a cheerful 6-year-old who loves to read and play with dolls. She eats through a feeding tube and cannot walk unaided, and her condition will worsen without treatment.

“We need something for our kids, and not just for our kids, but for future generations,” said Boggs, who lives in El Paso, Texas.

Taysha, one of a small number of companies investing in treatments for ultra-rare diseases, has cut its target from more than 20 to four rare drug programs.

“We share the disappointment and frustration of our patients and their families at this time,” the company said, “but we sincerely believe that the difficult decisions we make today will best position us to conduct further trials at the future.”

Other families are trying to prevent this scenario by securing more favorable terms when doing business with biotech companies, such as licensing payments and the ability to recoup drug rights if drugmakers take too much time.

Craig Benson, a chief financial officer from Austin, Texas, and his wife, Charlotte, formed the Beyond Batten Disease Foundation to find a treatment for their 19-year-old daughter, Christiane, who has Batten disease, which causes a loss of vision and seizures. .

The Bensons’ foundation funded a therapy that French pharmaceutical company Theranexus licensed in 2020 and is in the early stages of clinical trials. As part of the deal, Theranexus covered development costs and paid the foundation an undisclosed upfront sum. The foundation may receive additional payments and royalties from sales if the drug receives regulatory approval. Beyond Batten is reinvesting its money to research additional treatments that could complement the potential therapy.

“We don’t depend on bake sales,” Benson said.

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism on health issues. Along with policy analysis and polls, KHN is one of the three main operating programs of the KFF (Kaiser Family Foundation). KFF is an endowed non-profit organization providing information on health issues to the nation.

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