Problem Statement: Patient-focused drug development is key to creating disease-specific therapies that target outcomes important to patients and their families. An estimated 1,500 children and young adults in the United States are living with autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disease diagnosed in utero or early childhood with considerable variability in disease manifestations and severity. Treatment at the few existing clinical expert centers is symptomatic and focused on kidney replacement therapy which comes with considerable burden for patients and their families. Insights to the patient and caregiver lived experience, preferences, and unmet needs are needed to inform medical research.

Description: A virtual Externally Led-Patient Focused Drug Development (EL-PFDD) meeting was convened for ARPKD with participants from the patient community, industry, and regulators. The virtual meeting format allowed many ARPKD community members to participate through live online polls, telephone call-ins, and by providing written comments through an online portal.

Lessons Learned: An EL-PFDD meeting is an excellent way to engage rare disease patient populations and expert clinicians to highlight patient and family caregiver experience with the disease, current standard of care, and unmet needs.

Stakeholder Perspective: The meeting produced insights into the disease journeys of ARPKD. Reported health concerns included high blood pressure (experienced by 80%), fatigue (65%), gastrointestinal issues (60%), growth failure/small stature (55%), enlarged spleen (55%), anxiety/depression (45%), kidney failure (45%), and liver problems (45%). An ideal treatment for ARPKD should: prevent kidney disease progression (95%), prevent liver disease progression (81%), and delay time to transplant or avoid dialysis (62%). Additionally, a facilitated discussion gave participants an opportunity to share their lived experiences on these topics and provide a rich set of qualitative information to contextualize ARPKD and its unmet medical need.