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04/13/2021

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Rare diseases 101: How precision medicines can help
Click on the image above to see the full rare diseases infographic

More than 300 million people worldwide live with a rare disease, according to a study published in the European Journal of Human Genetics. Rare diseases are serious chronic diseases that may be life threatening, yet most patients suffering from these diseases have no approved form of treatment.

In the last 50 years, there has been considerable progress in understanding rare diseases although many unknowns remain (including how they occur among populations or across geographic locations, their frequency and their causes or risk factors). And, as modern medicine continues to advance, new treatments and therapies are being developed every day that could eradicate some of the 7,000+ rare diseases around the world.

At Cardinal Health, our experts partner with the companies that develop therapies for rare diseases to help increase access. We provide solutions across the drug development cycle, from assisting with regulatory approvals and enhancing product launching strategies, to ensuring that patients are able to get the medication they need.  

Here we provide some basics about rare diseases, take a look at what’s next in treatment options, and explore some of the ways that we help patients suffering from rare diseases.

What is a rare disease?
In the U.S., a rare disease is defined as a condition that affects fewer than 200,000 people. Though the majority of rare diseases are genetic abnormalities that can be life threatening, there are also rare diseases caused by bacterial infections or certain short-term conditions like pregnancy.

Some commonly referenced rare diseases include Huntington's disease, Tourette syndrome and muscular dystrophy. More recently, some cancers also have been defined as rare, as scientists better understand that some cancers are caused not by an underlying issue in an organ or tissue, or even by lifestyle factors like smoking or obesity, but are caused rather by the genetic and molecular pathways that govern how cells behave.

Understanding the rare disease patient
What makes patients with rare diseases particularly unique is their age range. Half of rare disease patients are children, 30% of whom will not reach their 5th birthday because of their disease. About 80% of rare diseases are linked to abnormal genes. There also are some rare diseases that aren’t diagnosed (or contracted) until the patients reach adulthood.

Rare diseases can take, on average, six to eight years to diagnose, because patients and their families typically have limited awareness of the diseases, and because symptoms are not always evident to health care providers. Even when a rare disease is diagnosed, patients and caregivers often struggle to access the right therapy. In fact, only 5% of the more than 7,000 currently recognized rare diseases have an FDA-approved treatment. And, even in those cases where approved treatments are available, access to patients may be limited by geographic barriers (because the complexities of administering and monitoring therapies limit their use to larger or specialized health care facilities), high treatment costs, and/or deleterious side effects.

“Patients on specialty medications for rare diseases need extra support, from the entire healthcare community,” said Bruce Feinberg, DO, Vice President and Chief Medical Officer at Cardinal Health Specialty Solutions. “Removing the many barriers to medication access cannot be the burden of one stakeholder, whether that be payer, pharmaceutical manufacturer or provider. There is a critical need for a system of solutions that works together to truly help these patients.”

To help link solutions, Cardinal Health works with pharmaceutical manufacturers to support more than 20,000 patients with rare diseases each year, and to help patients get access to the therapies they need.

Orphan drugs
Rare diseases are often referred to as “orphan diseases” with limited treatment options due to the high cost of developing drugs for the small number of patients for any given rare disease.

To increase interest in developing therapies for these orphan diseases, the U.S. Congress enacted the Orphan Drug Act in 1983, which provided financial incentives for pharmaceutical manufacturers, including tax credits, market exclusivity and more. As a result, more than 600 “orphan drugs” have been approved by the Food and Drug Administration (FDA) since the Orphan Drug Act’s passage.

"For too long rare diseases and the patients who suffer from them seemed invisible to the broad community of health care stakeholders," Feinberg said. "The Orphan Drug Act acted as the catalyst to help the industry see those patients and move therapy development forward.”

The rise of precision medicines to treat rare diseases
Today, thanks to precision medicines, the medical community may soon be able to move from managing chronic and life-threatening genetic diseases to curing them.

Gene therapies for rare diseases are now the focus of much scientific research: Because so many rare diseases are genetic, it is gene therapies that could cure them. Indeed, these therapies could save hundreds of thousands of lives. For example, one gene therapy in late-stage development could cure sickle cell anemia by restoring normal blood functions. Similarly, CAR T-cell therapy is beneficial in treating orphan cancers. In CAR T-cell therapy, a sample of a patient’s T-cells (white blood cells) is taken to a lab, where some of the genes in the cells are changed so that they can more easily find and fight cancer cells. The FDA approved the first CAR T-cell therapy to treat an orphan cancer in 2017; the FDA has since approved five more CAR T-cell therapies, all with orphan designations.

In addition, there are more than 300 cell and gene therapies under development – many focused on curing the once uncurable rare diseases. “The pipeline of gene therapies with the potential to save lives is an enormous success for our time,” Feinberg said.

Cardinal Health’s role in supporting patients with rare diseases
Before therapeutic products are available, the Regulatory Sciences team at Cardinal Health consults with pharmaceutical manufacturers to facilitate product approval by regulatory agencies like the FDA. In addition, our Real World Evidence team works with manufacturers to develop regulatory-grade research for therapies intended for small patient populations.

Once products are approved, our Third-Party Logistics and Services team handles wholesale and direct orders for rare disease products, and sets up standard operating procedures for CAR-T products.

Finally, once orphan therapies are on the market, the Cardinal Health SonexusTM Access and Patient Support team steps in, working directly with patients. They take patients’ calls, responding to questions, helping with the logistics for patients to travel to sites of care, finding answers to health insurance questions, and more, all to help ensure that patients can get on – and stay on – the critical therapies they need to manage or cure their diseases.

“Though there are still barriers to treatment, the advancements made every day are promising for patients with rare diseases,” Feinberg said. “At Cardinal Health, we’re proud to support patients, the providers who care for them and those who are developing new therapies.”

The infographic on this page highlights the role Cardinal Health plays in helping manufacturers gain approval for orphan therapies and supporting care providers and patients in accessing them.