Treating Rare Diseases Comes With Different Set of Challenges

About 7000 rare diseases affect approximately 350 million patients worldwide. Despite a relatively small patient population, treating rare diseases comes with significant challenges, including the high cost of drugs and the lack of a sufficient amount of patients to participate in clinical trials, according to a panel discussion at the Asembia Specialty Pharmacy Summit.

In 2016, the average annual cost of an orphan drug treatment regimen was $140,443, compared with $27,756 for non-orphan drugs. From a payer perspective, the cost of treatment is too high, which creates a demand for clear measurements of improved survival, along with addressing the budget impact to offset the disease and therapy costs, according to the panelists.

From the perspective of pharmaceutical manufacturers, best practices for rare disease therapy include early involvement of the FDA, consultants, payers, prescribers, patients, advocacy groups, financial assistance, hub services, and specialty pharmacies. However, the high pricing of treatments causes payers to question why they should have to cover these significant costs, resulting in arguments between payers and manufacturers.

“But the piece a lot of us miss is the end person, the patient, and no one really asks them the questions,” panelist Mala Crossley, PharmD, said during the session.

Diagnosing a rare disease can take an extended amount of time, which often leads to psychological issues, such as depression; furthermore, economic issues and compliance issues also arise. If a drug costs too much, then a patient is likely to attempt to prolong the use of the treatment, meaning poor compliance and adherence.

In specialty pharmacy, other factors than just drug efficacy are taken into consideration when working with a patient with a rare disease. In addition to evaluating if the drug is working properly, specialty pharmacists account for socioeconomic issues and mental health management.

“Social work comes into play, potential for PT [physical therapy] and OT [occupational therapy] come into play, and those are things that are never looked at when you’re looking at rare diseases,” Crossley said. “We always talk about it from a payer, manufacturer, and patient standpoint, but there are always other issues that you have to look at as well.”

The clinical approach to rare disease therapy includes patient-focused services, such as clinical drug knowledge, to assess the response and adverse events, drug administration, drug handling, and storage. The 21st Century Cures Act now requires patient experience data to be included in the approval process of a drug. The availability of assistance programs allows patients to afford their therapy in most cases. Because information regarding rare disease drugs can be difficult to find, clinical practice guideline resources, such as rarebestpractices.eu, are viable options.

Clinicians within a pharmacy view treatment as a collaboration between pharmacy and nursing, which requires a solid relationship. It also involves medication therapy management, as part of a holistic view of the patient, according to the panel. Specialty pharmacists cannot just focus on the rare disease, but must also look at other comorbidities the patient may have.

“It’s not just the medication therapy management, it’s also coordinating the nonclinical resources—nursing, social work, PT, OT, in some cases transportation,” Crossley said. “Those are all pieces, as a specialty pharmacy, that you have to think about.”

There are several ways to help reduce high drug costs for rare diseases, such as site of care, co-pay assistance, manufacturer patient assistance, and adherence and compliance, all of which play a significant role, the panelists concluded.