Albireo Study Highlighting the Caregiver Impact of Rare Children’s Liver Disease

Albireo Pharma said its PICTURE study evaluating and quantifying the impact that progressive familial intrahepatic cholestasis has on caregivers found a significant caregiver-reported burden on mental and physical health, productivity, career prospects, sleep, relationships, and finances.

Photo: Emily Ventura, CEO of PFIC Network

The study, published in the journal Orphanet Journal of Rare Disease, illustrates that progressive familial intrahepatic cholestasis (PFIC) levies a substantial burden that extends beyond the individuals with the disease to those caring for them.

“The PICTURE study reinforces what many of us intuitively know—the challenges of caregiving are ever present and often overwhelming and exhausting,” said Emily Ventura, CEO of PFIC Network, co-author of the PICTURE study and caregiver. “From loss of sleep to stress on finances and relationships, PICTURE reinforces that we must recognize the burden this disease puts on families and the importance of providing resources for PFIC caregivers, while continuing to fund research to improve treatment and care.”

PFIC is a spectrum of rare, pediatric, genetic diseases of cholestasis, characterized by inadequate bile secretion, often requiring liver transplantation, and leading to liver failure and early death. PFIC is a rare and devastating disorder affecting young children that causes progressive, life-threatening liver disease. Patients with PFIC have impaired bile flow, or cholestasis, and the resulting bile build-up in liver cells causes liver disease and symptoms such as intense itching, poor sleep, and diminished quality of life.

The rare nature of PFIC has presented challenges to understanding and quantifying its impact on the daily lives of patients and their caregivers. The PICTURE study is the first and largest global study to evaluate and quantify the health-related quality of life responses from PFIC caregivers. The study showed that while caregivers report feeling fulfillment from their caregiving responsibilities, they also reported measurable negative impacts on many important health-related quality of life measures and work productivity.

The PICTURE study was a cross-sectional burden of illness study of physician and caregiver-reported information for 22 patients with PFIC type 1 or 2 in France, Germany, the United Kingdom, and the United States from September 2020 through to March 2021. Physicians provided clinical and resource use data of PFIC patients at the time of consultation, via an electronic Case Report Form. Caregivers of PFIC patients, recruited by the physician as they attended a clinical appointment with the patient, completed online specific self-completion questionnaires about the impact of the disease on their lives. The study was conducted under the guidance of an Expert Reference Group, consisting of a representative of academia as principal investigator, partnering charity and advocacy representatives, as well as experts in the field of liver diseases. Funding for this study was provided by Albireo Pharma.

Specifically, the study found that PFIC substantially impacted caregivers’ quality of life with 82 percent of caregivers reported a strain on their relationships and 86 percent of caregivers reported difficulty sleeping.

Notably, caregivers in the PICTURE study reported a median quality of life score of 67.7 percent. This score is lower in comparison with quality of life reported in a separate study of caregivers for individuals with cystic fibrosis, a similarly rare, genetic, progressive, and lifespan-shortening condition (median 84.7 for mothers and 89.2 fathers).

On average, PFIC caregivers reported high impairment in daily activities and more than half also experienced loss of work productivity. Half of the caregivers surveyed said their child’s PFIC impacted their career-building efforts, with 73 percent of these citing the prevention of either their career progression or working more hours. One third of caregivers reported missing an average of 13 workdays in the last three months, equating to 52 workdays lost in 12 months. Of those who were working in paid employment, one third stopped work due to caregiving needs, missing an average of 2.8 years of employment during their career.

“The PICTURE study provides, for the first time, a look at what it’s really like for caregivers to live with the impact of this devastating, rare disease and the effect it has every day on families and adjacent communities,” said Ron Cooper, president and CEO of Albireo. “At Albireo, we are committed to being the gold standard partner in the fight against PFIC and the findings from the PICTURE study reinforce the importance of providing access to Bylvay, the first approved drug treatment for patients with PFIC.”

Albireo recently received U.S. regulatory approval for Bylvay, the first drug for the treatment of pruritus in all types of PFIC, and in Europe, Bylvay is approved for the treatment of PFIC.

Author: Rare Daily Staff