By Abigail Jastrab, PharmD, BCPS Director, Patient Engagement and Clinical Innovation, PANTHERx® Rare and Anastasia Abramson, PharmD, MBA, Senior Manager, Clinical Strategy, PANTHERx® Rare
In our clinical roles at PANTHERx® Rare, we spend a lot of time thinking about two things: How do we help patients access therapy—and how do we better understand their experience once they do?
Because too often, what happens between those two moments is where patients get stuck.
Starting therapy should be a moment of progress. But many patients find themselves waiting. In fact, recent research conducted with Morning Consult found that 90%1 of patients and caregivers said they are left navigating the system on their own. We see this every day in our work… patients are asked to move forward, but the system doesn’t always move with them.
Recently, we had the opportunity to present research at ISPOR developed in collaboration with Alexion. The research focuses on hypophosphatasia (HPP), a rare inherited metabolic bone disease that can lead to chronic pain and diminished physical function.
In HPP, as in many rare diseases, access is not straightforward.
Patients navigate layers of complexity—prior authorizations that require detailed clinical documentation, genetic testing results, and payer requirements that can vary widely.
At the same time, there is another challenge happening in parallel: a lack of meaningful, patient data to help inform the process.
This is where we see the opportunity to connect the dots in a way that better supports access for each patient.
By definition, rare diseases affect small populations, and that means data is often fragmented across providers, labs, and systems that don’t always connect. Even when information exists, it’s not consistently captured in a structured way, especially at the moment when a patient is trying to start therapy.
That gap matters more than it may seem.
Without clear, consistent baseline data, it becomes harder to:
- Support efficient prior authorization and coverage decisions
- Demonstrate clinical need in a way that aligns with payer expectations
- Identify patterns that could improve how patients are diagnosed and treated
That is where this work becomes so important.
Through our collaboration with Alexion’s OneSource™ program, we help coordinate access to therapy—but we are also able to capture something that is often missing.
At intake, with patient consent, we collect key baseline information—genetic testing results, lab values, and patient-reported symptoms—before therapy begins. Over time, this has resulted in a dataset of more than 1,000 adults in the U.S. living with HPP.
Within that dataset:
- 740 patients contributed genetic testing results
- 1,121 ALP, 1,019 PLP, and 195 PEA lab measurements were captured
- Nearly 500 patients shared symptom information
This type of baseline visibility is not typically available in rare disease—and that is what makes it so impactful.
From a clinical perspective, it allows us to move beyond individual cases and start to see the broader picture—how HPP presents across patients, where variability exists, and how symptoms and lab values align before treatment even begins.
But more importantly, it changes what we can do for patients in real time to create a more direct path for patients through data that is:
- More complete
- More organized
- More reflective of the patient’s actual experience
In a system where so many patients are already waiting, that matters.
It also changes how we work with our manufacturer partners.
This data allows us to bring forward real, aggregated insights—not just individual challenges, but patterns across patients. In collaboration with Alexion, that visibility becomes actionable. It helps to inform how support programs are structured, where additional education is needed, and how access strategies can be refined based on what is happening on the ground.
What stands out most is how connected all of this is.
You have a manufacturer-sponsored patient support program helping coordinate access. You have clinical pharmacy teams working through the day-to-day complexity with patients and providers. And you have a centralized rare disease pharmacy model that creates a unique line of sight across the patient population. When those elements come together, you are not just responding to issues—you are helping prevent them.
And that brings us back to where so many patients begin: that moment of waiting.
At the end of the day, this work is not just about data.
It is about making sure patients don’t get stuck in the space between diagnosis and treatment—and that when they’re ready to move forward, the system is ready to move with them.
1. Morning Consult. Rare Disease Patient Access Survey. Online survey, February 12–18, 2026, n=2,200 U.S. adults.