Missed Opportunities in Rare Disease

At CBI’s 7th Annual Rare Disease and Orphan Drug Leadership Congress, speakers and attendees identified areas where pharma can improve the way it approaches rare disease and treatment.

It’s no secret that rare diseases, and the orphan drugs pharmaceutical and biotech companies make to treat them, represent a unique business opportunity. Often, there is no treatment available at all for a given disease, which is the most fundamental definition of an unmet need. Today, treatments are available for around 3% of the approximately 6,800 rare diseases identified globally.

For patients with a rare disease, the emergence and value of a new treatment is self-evident; lives are dramatically altered for the better. From a business perspective, orphan drugs have much to recommend them. Many receive an expedited review from FDA and other regulatory bodies; most products are priced at a premium, given the lack of competition; patient populations and their families are often eager and willing participants in clinical trials, and smaller populations are more easily managed; and many orphan drugs, once approved for a rare disease, move on to label expansions for broader indications.

It’s also cost-effective to invest significantly in a rare disease population. Because the population is small, and each patient – or “walking asset,” as one financial analyst put it – represents significant revenue, pharma companies can afford to provide the kinds of services “beyond the pill” that everyone seems so keen to deliver. One of the current problems, according to speakers at CBI’s 7^th Annual Rare Disease and Orphan Drug Leadership Congress in Philadelphia yesterday, is that these services aren’t being administered effectively, because they aren’t being designed from the end user – the patient and physician – point of view. “It’s not like pharma isn’t creating the right programs” – programs around patient assistance, adherence and education, specialty pharmacy distribution, reimbursement, nursing services, REMS compliance, etc. – “they’re checking the boxes but not harmonizing all of the components so that there is a seamless experience for patients and doctors,” said Kristin Keller, EVP at Compass Healthcare Marketers, an agency focused orphan drug patient marketing. “People will drop out of the funnel if everything isn’t integrated from a patient point of view.”

On REMS programs, Keller noted that industry is “being myopic about the opportunity it affords.” As a regulatory action, REMS programs are typically governed by a conservative approach, and not exactly celebrated. “Because REMS programs enable companies to have direct contact with all patients on therapy, there’s an opportunity to go beyond regulatory requirements to use that contact to deliver even greater education and support to the patient,” said Keller. Industry should look at REMS as a data asset instead of a regulatory headache.

With respect to missed opportunities in data management, one speaker wondered why “no one incorporates learnings and protocols from the clinic into adherence and education programs for patients.” This question becomes especially pertinent when a new drug is introduced for a rare disease currently being treated with an older drug that perhaps doesn’t work as well, or has unwanted side effects. Even so, patients are scared to switch to the new drug, and risk going back to a full-blown disease state. Pharma, according to the speaker, isn’t doing a good job explaining the benefits of the new drug, and tying that treatment to the here and now: what life might be like tonight, tomorrow, or a week from now. One reason for this has to do with med/legal and pharma’s inability to make comparisons that aren’t clearly backed up in the clinic or on the label. One speaker proposed a “patient-friendly compliance expert” with medical claims knowledge, but also a knack for translating that knowledge into a dialogue with patients that would leave them with a better understanding of a drug’s benefit, so they can make a more informed decision.

What do rare disease patients think about all of this? Unfortunately, no actual patients took the stage to give presentations, but there were a few in the audience. One sickle cell patient set off a flurry of discussion among the audience when he asked about how to deal with faith – i.e. God and His followers – in the sickle cell community. “Patients will often listen to their pastors over their doctors,” he said. One audience member said her company had dealt with the same problem among members of the Ashkenazi Jewish heritage, which is plagued by high incidences of genetic disease. Her answer? A KOL is a KOL. “We targeted messaging to temples and to rabbis,” she said.

Other topics discussed at the meeting included the importance of managed access programs, also known by many other names including expanded access programs, early access programs, etc., etc., all of which provide medicine to patients where it isn’t commercially available. Interestingly, companies are now beginning to collect real-world data as part of these programs, which can then be used – particularly in the case of a managed access program conducted while a drug is still in phase 3 – to augment a drug’s dossier at registration. “We did incorporate data from an access program in the safety profile submission for a biologics license application, to support the traditional clinical data,” one speaker said.

During a question and answer panel with several patient advocacy group speakers, everyone emphasized the importance of pharma engaging early with their organizations. “Don’t wait for an approval and then show up with an educational piece and say, ‘What do you think of this?’ said one of the speakers. Another underscored the importance of keeping advocacy groups informed about clinical trials and other developments, so that patients’ expectations can be more efficiently managed. Managing expectations is a crucial role of patient advocacy groups, as more and more patients become involved in the system. Three factors are contributing the rise of patient advocacy, one speaker said: the increase in transparency of company pipelines; the growing empowerment via education of patients and their families; and the connection to other patients provided by social media and emerging technologies.

For companies working in the orphan disease space, or looking to move into it, the days of focusing exclusively on developing a treatment, and then chucking it out into the market for patients to purchase are over. From the early development stages, to access, to patient monitoring and adherence, now it pays to take a walk in the patient’s shoes.