Dying patients with rare diseases struggle to get experimental treatments

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At the age of fifteen, autumn is dying Foernesen. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile Huntington’s disease.

“There are a lot of things she used to do really well,” said her mother, Lundin Tabor, who lives with her daughter in Gillette, Wyoming. Autumn’s speech became ambiguous and her cognitive skills slowed down. She needs help with many tasks, such as writing, bathing, and getting dressed, and while she can walk, her balance is off.

Autumn was rejected for clinical trials because they were too small.

It’s very frustrating for me,” Tabor said. “I will sell my soul to try to get any kind [of treatment] to help my daughter.”

Autumn needs help with many everyday tasks, says her mother, Lundin Tabor, Lundin Tabor

For patients like Fall with immediately serious or life-threatening conditions who do not qualify for clinical trials and have exhausted all treatment options, there may be another option: seek approval from the Food and Drug Administration to expand access, or compassionate use, for trial treatments.

Definitive numbers are hard to find, but studies by researchers, actions by drugmakers, and expert insights suggest that expanded access to unproven treatments for rare diseases is more difficult than for more common ones, such as cancer.

Even as experimental treatments increase, patients with rare diseases often face drug companies’ unwillingness to provide them before clinical studies are completed. The development of drugs for these diseases is a particularly fragile process because the sick population is small and often diverse, with different genes, symptoms, and other characteristics, which makes studying the effects of drugs difficult.

Drugmakers believe that delivering a drug before studies are completed could impair its development and threaten FDA approval.

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Companies working on treatments for rare diseases, especially smaller ones, can feel these fallout sharply, said Lisa Kearns, a researcher in the Department of Ethics at New York University School of Medicine and a member of the department’s working group on compassionate use and informed consent. “There is not much investment in rare diseases, so [adverse] The event could scare the already limited number of potential investors.”

Waiting for the results of the experiment

Medications that were not available for compassionate use in the past year until studies were completed include Evrysdi, for spinal muscular atrophy. Enspryng, for an autoimmune disease of the optic nerve and spinal cord called the neuromyelitis optica disorder. and Viltepso, for some patients with Duchenne muscular dystrophy.

A spokesperson for Roche, which makes Evrysdi and Enspryng and is working on a treatment for Huntington’s disease, said the decision was not related to the type of disease but to company policy: Roche does not create expanded access programs for any drugs until results are in. Available from a phase 3 clinical trial. Phase III studies are usually the last test done before a company seeks approval for a drug.

Another company’s experimental drug for myasthenia gravis, an autoimmune disease that leads to weakness in skeletal muscle, similarly was not available through the EAP until research was completed last year, and no programs for the treatment being studied in phase 3 clinical trials had begun Huntington’s disease and amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease often referred to as Lou Gehrig’s disease.

A slight but noticeable deviation: Drug maker Biogen agreed this year to allow some ALS patients to receive an experimental drug as early as July 15, after testing had been completed but before the results were known.

Merit Cudkowicz, a neurologist at Massachusetts General Hospital in Boston, helped patients get treatments by expanding access. Since September 2018, she and her colleagues have launched 10 programs that seek to match people to ALS treatments being developed by drug companies, but only about 120 patients have received treatment in this way. It is estimated that more than 16,000 people in the United States had ALS in 2015 and most of them were ineligible for clinical trials due to disease progression or very strict eligibility requirements.

We’re talking about patients who would die if they were told to wait.

These examples contrast with some medications for more common problems. Gleevec, to treat leukemia, was offered to thousands of patients through extended access programs before the manufacturer completed the clinical studies that led to FDA approval. Videx, for HIV/AIDS, and Iressa, the most common type of lung cancer, have been offered to large numbers of patients even as clinical trials continue.

Last year, Novartis gave more than 7,000 patients worldwide early access to cancer drugs.

Doctors also report that getting experimental drugs for cancer patients is relatively simple. More than 200 doctors nationwide were surveyed, and of those who applied for treatment, nearly 90 percent said they had secured medication that is still under investigation for patients who don’t respond to approved treatments.

California researchers found similar trends in a review of 23 social media campaigns that patients launched between 2005 and 2015 looking for a variety of experimental treatments. While seven of 19 patients with cancer had early access to needed medications, three patients with rare diseases were not allowed access, although one of those patients was allowed to enroll in a clinical trial.

Jess Raburn, CEO of WideTrial, which helps drug companies administer compassionate use programs, said companies base their decisions on whether to offer treatment with expanded access to a number of factors. In general, there should be evidence that patients can tolerate the treatment and expect that any benefit outweighs the risks, he said.

“This idea that you have to wait for the research to be done is absurd,” he said. “We’re talking about patients who will die if they are told to wait.”

But drugmakers often view it differently, even though evidence suggests that granting early access rarely disrupts drug approval.

Kearns explained that companies often wait until Phase 3, or later, because they can be “relatively” confident in a drug’s safety and efficacy. “They don’t want to harm patients, of course, but they also don’t want to threaten the drug’s final regulatory approval with an adverse event in the [a] The population is very sick.”

Melissa Hogan, who advises on clinical trials for rare diseases and is a representative of FDA patients, attributes the lack of access to the high cost of treatments and the cohesive nature of the rare disease community, where patients and their families often create groups on social media and share ideas and treatment plans. Hogan, who has a son with mucopolysaccharidosis type 2, said the companies “know that if one patient has access, other patients will know” and request access. It can confuse small drug makers with little manufacturing capacity.

These concerns cause ‘many companies [to] Just raise their hands and take a hard line [expanded access] Hogan said.

The Right to Trial Act of 2018 offers another option for some patients. Unlike Extended Access, the law applies only to requests for drugs — not medical devices — and does not require approval from the Food and Drug Administration or the Institutional Review Board, a panel that reviews and monitors people involved in research for their protection. However, the legislation does not require companies to agree to an application.

For Kali Ursulac, extended access may be her husband’s only option. He was diagnosed with ALS in 2019 at the age of 43.

Explaining that they live in Canada but seek medical care in the United States, Ursulak said, “We did our best with the skill level we had to research clinical trials across Canada and the United States, and then Covid hit and it became increasingly difficult,” He explained that they live in Canada but are seeking medical care in the United States. . “Now that my husband has advanced, it’s even more difficult to get into clinical trials.”

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