(2026) PFIC Research Consortium Project

Speakers: Melissa Kochanowsky (Associate Director of Programs, PFIC Network) and Gitta Lubke (Science Advisor, PFIC Network)

Melissa Kochanowskiy: Hi, everyone. My name is Melissa Kochanowsky, and I’m joined by Gitta Lubke, our science advisor. I’m Associate Director of Programs at PFIC Network — I kind of wear a lot of hats, like Emily, which is pretty typical for the nonprofit sector. I help with our education and advocacy programs, but I also really focus a lot of my work on our research programming, which I’m going to be sharing more about with you all today.

During this session, I’m going to give some background on a couple of specific research program projects we’ve had, including one that we ended last year, IMPACT, which many of you may already know about, and what we’re currently working on as a follow-on to that project. Then I’ll bring Gitta over to share some background information about research in general, to provide context for some breakout discussion groups that we’ll be going into toward the latter third of the session.

Looking back to 2022

Before we get started, I want to take us all back to our conference like this one in 2022, in Pittsburgh. It was a little smaller back then, but we had a lot of really meaningful discussion. Specifically, we asked patients and families in the room what challenges they were facing with clinical management — with navigating treatment decisions, and just any challenges in general that they were facing.

What emerged really noticeably was the lack of clinical care guidelines for PFIC, leading to patients having difficulty knowing what the best next step is for their kiddos — and especially the lack of patient preferences being systematically incorporated into those decisions. For example, having evidence to be able to discern which option might be better for me, based on my specific preferences, for my child or myself.

After those discussions, we identified a specific kind of research called patient-centered CER, which I’ll tell you more about in a moment, that can generate evidence to help with better-informed healthcare decisions and maybe address some of the challenges that were shared during that meeting.

What is patient-centered CER?

So what is patient-centered CER? Let’s start with the CER piece. CER stands for Comparative (Clinical) Effectiveness Research. TLDR: it compares two or more treatments that are already used in practice to see which one works better.

What makes CER patient-centered is that it addresses questions about the treatments that matter most to patients, and the outcomes that are most important to them too — such as quality of life, quality of sleep, and so on.

Another important element of patient-centered CER is the involvement of patients as equal partners in research — not just as participants getting enrolled and providing data, but really involved in designing the study, choosing the question, figuring out how to reduce the participation burden for others joining the study, and then helping disseminate those results back to the community in a way that’s easy to understand and reaches as many hands as possible, so it’s as helpful as possible.

There is an institution called PCORI. They are the primary funder for this specific kind of research. It’s a U.S. government–sponsored nonprofit organization. As I mentioned, they fund those types of studies, and they also fund organizations like ours and academic institutions that are working to build the infrastructure to start conducting these types of studies.

PFIC Network’s PCORI-funded projects

PFIC Network received its first award from PCORI back in 2023 — specifically not to do research yet, but to work toward it by building that infrastructure. We then received a second round of similar funding in January of this year.

IMPACT

A little bit about our first project: it was under the Eugene Washington Engagement Award umbrella. We called it IMPACT (Identifying Research Targets by Emerging Patient and Clinician Treatment Information). It ran for two years, from July 2023 to July of last year.

During that time, we educated patients, families, clinicians, and researchers on how to partner as equals in research, through a virtual learning module curriculum. We then brought all these folks together in focus groups and also used surveys to gather input on what questions, concerns, and outcomes matter most to patients and their caregivers. We consolidated all of this into a roadmap that includes a list of these questions and outcomes, which we can use as targets for future patient-centered CER studies.

At the end of that project, we identified a few remaining gaps. First, there was no dedicated research infrastructure to design and carry out studies. Second, we didn’t yet have a prioritized, feasible research agenda — we had a lot of great questions and outcomes that we knew mattered a lot to patients and families, but we needed to identify which mattered most, and which could most realistically be done in a study, given challenges around statistical power when working with a rare disease and smaller population sizes.

The consortium project

So we applied to PCORI again and got a second award, with a goal of establishing a consortium to fill these remaining gaps. Specifically, from January of this year until the end of 2027, we set out to form a steering committee — which we’ve successfully done. It includes 6 patients and parents, 6 clinician researchers, and 2 nursing professionals.

This group will be tasked, over the next 6 months, with developing a governance charter for the consortium — how it will operate, how it will make decisions, and how it will assemble research project teams to carry out studies. It will also help define the feasible, prioritized research agenda, specifically next year.

I want to give a quick shout-out to our project team — the group we assembled back in January that was involved in designing this project and carrying out the activities. Dr. Jim Squires and Marianne were unable to join us today, but if you’re watching online, hello! And of course, Emily, Gitta, and myself.

As I mentioned, we’ve formed the steering committee, and governance charter development is now underway, which is exciting — we had our first meeting for that yesterday, and I think it went really well. Next year, you’ll be hearing more updates about us turning those IMPACT targets into a feasible research agenda.

This is our consortium steering committee, finalized as of last month. It’s a lot of names, so I’ll save time and not read them all, but they’re wonderful people.

Setting up the breakout sessions

For the rest of this session, we want to hear your feedback on what helps or gets in the way of participating in research studies. Later on, we’ll have you all join small breakout groups — we’ve assigned specific rooms, and I’ll share more instructions shortly. We’ll have facilitators in each room who will ask a set of guided questions, and we’ll use your feedback — summarizing all of it — to help inform how we design future studies for the consortium.

Before we do that, though, I’m going to invite Gitta up to share a bit more background about research in general.

Background on clinical research

Gitta Lubke: Very generally, clinical research aims to understand and improve health conditions. That can include a focus on disease detection, treatment, or prevention.

CER studies, as Melissa already described, are a very specific type of research where two or more treatments are compared — basically to figure out what works best, under which conditions, and for whom.

Here are two examples of potential CER studies in PFIC. One would be a combined vitamin formulation versus individual vitamins — where you could look at palatability, adherence to taking the vitamins, vitamin levels, and aspects of quality of life. This example also illustrates that patient-centered CER studies aren’t limited to only patient-centered outcomes — they can also include medical outcomes, like vitamin levels, or whatever else you want to measure.

Another example would be itch treatment plus mental health support — because, very generally, itch might be related to anxiety, and mental health support might be helpful in addition to itch treatment. In a study like that, you’d want to figure out whether that’s actually the case, and outcomes could include perceived or actual itch, sleep quality, aspects of quality of life, and aspects of mental health.

Steps in setting up a study

When you set up a study, you go through different steps. First, you come up with a question — in patient-centered CER, that’s a phase where patients, clinicians, and researchers get together and determine the question together.

Next comes designing the study and checking feasibility. At some point, you’ll want to involve someone who knows about statistics to check feasibility — for instance, when there’s a big difference between treatments, you don’t need a lot of people to show that in a study. But if the difference is really small, you need a large number of people, and in a rare disease, that can be an issue. So you definitely need to look at design and feasibility.

Once that’s done, the next step is IRB approval. IRB stands for Institutional Review Board. Any study involving human beings needs IRB approval. There’s an independent panel that looks at your study proposal and checks whether participants are sufficiently protected in that protocol — which is obviously very important. (I have another slide on that with more detail, because it feeds directly into what we want to accomplish in the breakout sessions.)

Once you have IRB approval, you write up your proposal. If the idea is good, and with a little luck, you might get funded — and then you collect and analyze the data and share it with the community.

More on IRB approval

The IRB is an independent committee that reviews and eventually approves every study before it can start. PFIC Network works with an independent review panel that serves nonprofit organizations, and they’ve been amazing. For instance, participating in these breakout sessions requires consent, because it’s officially part of the consortium project, which is a study — and since we’re collecting data, we’re basically writing up what you say, so everyone needs to consent to that.

The reason IRB approval is necessary is to make sure risks in a study are minimized, that benefits are fair, and that consent to participate is genuine. In the breakout sessions, we’ll also talk a little about consent — consent is a legal document, and legal language is often hard to understand. We want to figure out how to make that more understandable to participants, so that consent is, in fact, genuine.

IRB review is based on the Belmont Report. In the history of medical science, there are numerous hideous examples where patients or participants were not protected, and there were severe risks to health outcomes. To put an end to such practices, the Belmont Report was published in 1979, and there are three main principles behind IRB review: respect for persons, beneficence, and justice.

Separate from IRB is HIPAA — a law that protects your healthcare information. It basically protects the privacy of study participants’ health information and personal information.

Study designs: observational studies vs. randomized controlled trials

Now, back to the scope of conducting research, especially CER studies. When you want to compare treatments, there are two main study types you can use.

Observational studies: Here, patients and their doctors decide what treatment is appropriate, and the patient receives that treatment. The only thing researchers do in this type of study is observe the outcomes for people using different treatments.

While this is definitely a worthwhile study design, there’s a major drawback. It can happen that, say, older people are more likely to receive Treatment A, and younger people are more likely to receive Treatment B. So when you analyze the results and see that Treatment A seems to work a lot better, you can’t really know whether that’s due to the treatment or due to those people being older — there’s confounding, because the choice of treatment was individual.

Randomized controlled trials (RCTs): These are a study design that addresses that problem. Instead of leaving the treatment choice to patients and doctors, participants are randomly assigned — by a computerized coin flip, essentially — to receive Treatment A, B, C, or whatever treatments are being studied.

If you flip a coin and one patient goes here and another goes there, then age (and other characteristics, like gender) gets more or less equally distributed across the two groups. So when you compare the groups on the study outcomes, and Treatment A shows up as more effective, it’s much more likely that the difference is actually due to the treatment — because the assigned treatment is really the only thing the groups differ on systematically.

I’m mentioning this because it feeds into the breakout session: patients or study participants might be more comfortable with an observational design, because then the choice of treatment stays between them and their doctors. However, in an observational study, the type of conclusions you can draw are much more limited compared to a randomized controlled trial. So these are things we wanted to lay out as background before going into the breakout sessions, so we can be a bit more informed going in.

Goals for the breakout discussion

The research roundtable — the consortium — will design studies that evaluate different PFIC treatments. The goal for today is to discuss what enables or prevents PFIC patients from participating in these studies.

The second thing we want your input on is consent. As I said, it’s a legal document with a lot of legal language. In the IMPACT study, patients told us things like, “I’m just putting my signature here, but I don’t really understand all these pages.” So in the breakout sessions, we’d also like to talk about how we can make consent more accessible, so participants are more comfortable signing informed consent forms.

Breakout group logistics

Melissa Kochanowsky: All right, I think now it’s time for us to break up. Here’s what we’ll do:

• Ages 8–12: If you’re age 8 through 12, and you (or your parent) provided permission to participate in the breakout group for that age range, please find Caitlin Schneider — she’s over there — and follow her to the breakout room in Salon G (around the corner and to the left).
• Ages 13–17 and adult patients: Please see Emily Perrito and follow her to the Wabash River Room, if you’ve provided consent (and your parent has as well, if applicable). For the adults, Emily will also read a brief consent script during the session.
• Parents/caregivers: If you’d like to participate, please stay in this room — you’re stuck with me!
• Clinicians and researchers: Please join Gitta in Salon EF (around the corner to the left).

Thank you so much. If anyone has any questions, let me know.