First research paper covering the PFIC Network Patient Registry published
We are proud to announce a significant milestone for the PFIC community: the publication of the first research paper reporting data from the PFIC Network Patient Registry (PNPR). The paper titled, “Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry”, was published in the Journal of Pediatric Gastroenterology and Nutrition and is now available online.
This publication, written in collaboration between clinicians, researchers, and PFIC Network staff, is the result of years of effort by our community. Started in 2022, our registry was built on a simple but powerful belief: that experiences reported directly from patients and families living with PFIC are essential to understanding the disease.
About the Registry
The PNPR was created to collect patient-reported outcomes rather than outcomes reported by doctors and nurses, and to include patient-centered outcomes such as measures of quality of life in addition to diagnoses, medications, and surgeries.
Importantly, the PNPR was designed not just to collect a snapshot of patient experiences, but to track them over time. Enrolled participants are asked to complete a follow-up survey every six months. This longitudinal approach – collecting data from the same patients at regular intervals – provides insight into how PFIC progresses, how symptoms change, and how treatments affect patients’ lives in the long run.
The registry uses validated survey instruments, meaning standardized survey questions that have been rigorously tested for accuracy and consistency. One example are questionnaires about itch, sleep, and general health from PROMIS (Patient-Reported Outcomes Measurement Information System), a set of measures developed with funding from the National Institutes of Health. Because PROMIS is used across many diseases and in the general population, it allows the experiences of PFIC patients to be compared directly to the broader U.S. population, giving important context to just how much this disease affects daily life.
What the Study Found
The analysis included baseline data from 161 patients from around the world, spanning multiple PFIC subtypes as well as benign recurrent intrahepatic cholestasis (BRIC). The majority of participants included in the analysis were children and adolescents, with about 74% of data reported by parents on behalf of their child. The most common reported diagnosis was BSEP deficiency (PFIC 2), followed by FIC1 deficiency (PFIC 1) and MDR3 deficiency (PFIC 3).
Key findings include:
PFIC-related itch (pruritus) significantly correlates with sleep. The severity of itch was directly linked to sleep quality and the impact of sleep quality on daily life. The more severe the itch, the worse the sleep and its effects.
Itch affects the whole family. Higher itch severity was also associated with lower family quality of life, confirming what so many PFIC families already know firsthand.
The financial burden of PFIC is severe. Families reported higher out-of-pocket medical costs and greater difficulty arranging medical care compared to the general U.S. population.
Why This Research Matters
If you are a person or family living with PFIC, some of these findings may feel obvious. You don’t need a research paper to tell you that itch disrupts sleep and managing a rare disease causes financial strain.
But here’s why it matters that we can now show it with data: in the world of advocacy and medical research, personal stories are powerful but they’re often not enough on their own to drive change. What drives change most is data – and data is evidence: systematically collected information that researchers and clinicians can rely on. Researchers use it to design future studies and decide which questions are most important to investigate. Clinicians use it to make informed treatment decisions. Policy makers and insurers use it to justify coverage and resources, and drug developers use it to understand which issues or symptoms their therapies should target (like itch!)
When we can point to a peer-reviewed publication showing that people living with PFIC face significant financial burdens relative to the general population or that itch is linked to worse sleep and lower family quality of life, those findings carry weight in rooms where decisions get made. Research like this gives clinicians, researchers, policymakers, and drug developers the evidence they need to make the case for better care, better treatments, and better support for the PFIC community.
Read More
For a great plain-language summary of the paper’s findings, we recommend this article from Liver Disease News.