Communication and Market Access Key for Specialty Pharmacy, Manufacturer Partnerships in Rare Disease

Panelists from a session at Asembia 2021 Specialty Pharmacy Summit in Las Vegas discussed considerations for manufacturers, specialty pharmacies, and payers entering the rare disease and gene therapy market.

Panelists from the session “Rare Diseases and Gene Therapies: Specialty Pharmacy Considerations,” presented at Asembia 2021 Specialty Pharmacy Summit in Las Vegas, discussed considerations when entering the rare disease and gene therapy market from the perspective of the manufacturer partnering with specialty pharmacies.

Nick Calla, senior vice president, Industry Relations, Orsini Specialty Pharmacy, opened the discussion by highlighting the treatment journey experienced by patients with rare diseases, in which only 10% of the 7000 rare diseases known today have an identified treatment. Notably, children represent 50% of the cases involving rare diseases.

“The focus on how gene therapy can help patients with rare diseases is increasing over time," he said. "You're seeing it from both a small biotech point of view, as well as larger pharmaceutical manufacturers getting into the mix.”

With many large manufacturers partnering or acquiring smaller companies to gain access to these types of products, there are several unique challenges for these manufacturers entering the market, noted Calla. In particular, there is managing the significant investment required in developing these therapies, reaching these very small patient populations, and proving efficacy to the FDA for approval.

“Manufacturers work very close to the patient through their field reimbursement teams, through their case managers," Calla said. "And specialty pharmacies that then work with manufacturers have to have a very strong communication, a very tight connection….It's a different dynamic than what we've seen in the traditional pharmacy, manufacturer relationship.”

As communication plays a key role in improving market access of novel rare disease treatments, panelist Dave Frobel, senior vice president, Trade Relations, Orsini Specialty Pharmacy, spoke further on the considerations of what an effective relationship between a manufacturer and specialty pharmacy entails.

A 2018 survey that asked manufacturers their top reasons for choosing their particular specialty pharmacy found 1 in 3 identified access to payers and payer relationships as the leading reason.

Moreover, more than half of manufacturers indicated a desire for enhancement of services across the board, especially regarding communication with patients, improved responsiveness in getting their products to patients, and more data on trends of the patient populations they’re serving.

“Another part of the survey was asking about hub services….What the survey found was that 83% of the manufacturers said there's room to improve and 17% said they weren't pleased at all,” added Frobel. “So, what that's telling me is that kind of the standard model for hub services may not fit well with rare diseases, and we may need to kind of customize it.”

Noting this as an opportunity for specialty pharmacy to customize their services to these needs, Frobel highlighted several considerations for these entities:

  • Establish customizable agreements and close working relationships with payers
  • Offer a letter of agreement or single-case agreement
  • Be able to build both the medical and pharmacy benefit
  • Be able to help health care providers navigate prior authorizations, appeals, and letters of medical necessity
  • Have licensed nurses trained and experienced in administering infusions in the home, in pediatric populations, and with specific training for the particular drug

As these cell and gene therapies require multiple storage capabilities, such as ultra-low freezer storage, Frobel said that catering to these needs in delivering to physician offices, outpatient hospitals, and patients’ homes is also key.

“If it's a weekly infusion, it's pretty important to have a quick turnaround time to make sure everything's in place by the time they get their last clinic infusion, and you can fill the nurse into this for the next week without missing any infusions,” he said.

Although cell and gene therapies are often grouped together, distinguishing between these 2 options is important in understanding the tolerability and risk posed to these patient populations. Frobel explained that gene therapy refers to modifying a person's genes by either replacing the missing gene, by inactivating a gene that's not functioning properly, or regulating a dysfunction gene.

“There's been a lot of safety concerns around this—probably a lot of it is we don't know what we know, but there's a couple of key considerations to keep in mind," he said. "One is that patients may have an immune response to the viral vector….The other thing that can be worrisome is if this gene therapy is delivered to non-target cells and what that might cause, and I think that's where there's a lot of investigation and close watching by the FDA.”

Involving the transfer of live cells that perform a desired function to the patient, cell therapies like chimeric antigen receptor T-cell therapy have shown promise in several disease areas, but they have been shown to present with significant toxicity to patients, which may warrant increased investigation on which patients may best tolerate these treatments.

Speaking on the future of cell and gene therapies, Calla said there are currently thousands of gene therapies in development for oncology (n = 1048) and rare disease (n = 869) that the FDA are watching closely.


The payer’s role in managing the high upfront cost of these therapies was also cited as important factors to monitor, especially regarding special contracting agreements, value-based contracts with manufacturers, and higher cost share for patients.

“At the end of the day, what we’re really looking at is the patient,” concluded Calla. “We want to give the patient hope that there is potential to have a treatment for one of their rare diseases. We want to be able to collaborate with the patient and the family. And we obviously want to continue the advocacy for early access to these products and to have the FDA approve more of these products.”