David A. White/Biogen



Finding Common Ground for Rare Diseases

Earlier this month, a team of researchers from Louisiana State University (LSU) announced the development of a supercomputer model designed to identify existing medicines that can be repurposed to treat rare diseases. This method of “teaching old drugs new tricks” has already led to promising treatments for breast cancer, leukemia, and many other disorders, but has until now relied on scientists discovering a medication’s secondary use by chance.

This breakthrough promises not only to save time and money but also to provide patients with a broader arsenal of treatments. While waiting for the LSU computer model to bear fruit, however, more effort is needed to expand access to already proven treatments for rare diseases.

The forgotten many

Worldwide, more than 350 million people suffer from rare diseases, more than the entire U.S. population, collectively representing “one of the largest under-served patient populations in the world.”

Many of these “orphan diseases” affect so few people that researching cures for them is not economically viable, and while some governments have created incentives for their development, they remain few and far between.

Unfortunately, recent history has shown that identifying a viable treatment for rare conditions is only half the battle—even those patients lucky enough to have an effective medicine for their disease often find their access to treatment restricted, with governments and insurers refusing to foot the bill or imposing arbitrary conditions on coverage.

Just out of reach

Knowing that a treatment exists but being unable to access it is particularly devastating for parents of young patients, who make up approximately half of all those diagnosed with rare diseases and 30% of whom will not live to see their fifth birthday. Canadian mother Jessica Madgett underscored the particular pain of watching her daughter get weaker by the day while knowing which medicine could halt her child’s decline.

Madgett’s daughter has spinal muscular atrophy (SMA), a genetic disease which attacks motor neurons in the spinal cord and leads to paralysis and death. For years, doctors could only offer SMA patients palliative care, until the “miracle drug” Spinraza came along. Spinraza delays—and may even reverse—the disease’s progression. The drug was given the green light by Health Canada in June 2017, but barriers still block children like Madgett’s daughter from accessing it.

The Canadian Agency for Drugs and Technologies in Health (CADTH) ruled in December that the drug would only be rolled out to those afflicted with Type 1 SMA who were diagnosed before the age of seven months. So far, Canadian provincial governments have followed the CADTH’s recommendation, failing to put patients’ interests before pecuniary concerns and leaving many SMA patients who do not meet these stringent requirements, such as four-year-old Natalie Essex, whose mother credits Spinraza therapy for her newfound ability to stand with the help of a walker, stranded in limbo.

A widespread problem

Canada isn’t the only place where patients are unable to access the treatment they desperately need. Despite being approved by the EU in June 2017, access to Spinraza is still restricted in some of its member states, where countries like the UK only recently began the process of evaluating whether to approve the drug.

Thanks to the NHS’s budgetary constraints, rare disease patients in the UK are extremely familiar with these uphill battles to receive the treatments they need. Two sisters suffering from Tumor-necrosis-factor Receptor Associated Periodic Syndrome (TRAPS) face near-constant outbreaks of debilitating muscular and abdominal pain, as well as the eventuality of renal failure and life on dialysis, yet were denied treatment by the NHS.

In another example, an autistic boy diagnosed with phenylketonuria (PKU) was denied access to Kuvan, a drug which enables his body to better digest protein. His parents have taken the NHS to court in an attempt to overturn the decision.

Meanwhile, in the U.S., some parents are still having to badger hospitals to carry the drug. One American mother, for example, was forced to write to Columbia University Medical Center’s medical board every day for months before her son was given his first injection of Spinraza.

Private insurers no better than public

Withholding treatment from sufferers of rare diseases is not just a decision taken by cash-strapped public health services, however. In the States, private insurers are balking at funding Exondys 51, a drug aimed at alleviating the effects of Duchenne muscular dystrophy, a condition which often kills its victims before their 30th birthday. Despite Exondys 51’s promising results in trials, many insurance companies won’t pay for the drug, or tie reimbursement to criteria patients see as unfair—whether the patient can walk a certain distance in six minutes, for example.

This isn’t the only example of insurers granting access to medication based on seemingly arbitrary or excessive conditions. Patients with primary immunodeficiency diseases risk finding their treatment plans interrupted or abruptly stopped if they do not comply with continual bloodwork assessments. In one case, a college student’s insurer cut off the medication with which he had been controlling his condition for three years, suggesting that he needed new lab work to demonstrate that he still needed the medicine. While appealing the decision, the patient developed pneumonia and a collapsed lung.

Prioritizing people above profit

The student’s plight underlines the potentially devastating human consequences of governments’ and insurers’ scrimping. As Rosa Cavallero, the Canadian mother of a 17-year-old son with SMA, said: “There are some things in life you don’t put a price tag on and life is one of them.”

Hopefully, the computer model proposed by the LSU scientists will eventually lead to a cheaper, greater variety of treatments for rare disease sufferers. In the meantime, it’s imperative that patients lucky enough to have an effective treatment for their condition available are able to take full advantage of it.