RecruitingPhase 3NCT04782258
Renal
Autosomal Recessive Polycystic Kidney Disease
Also known as ARPKD, infantile polycystic kidney, PKHD1 disease
Autosomal recessive polycystic kidney disease is a severe fibrocystic disorder caused by mutations in PKHD1, encoding fibrocystin/polyductin, leading to bilateral renal enlargement with collecting duct ectasia and congenital hepatic fibrosi
ORPHA:731 ↗Gene PKHD1Prevalence Approximately 1 in 20,000 live birthsOnset Prenatal / Neonatal (though milder cases present in childhood or adulthood)
6
studies recruiting now
as of 7 Sept 2026
9
studies registered in total
as of 7 Sept 2026
8
countries with a recruiting site
as of 7 Sept 2026
1 Oct 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01401998
ARPKD Database Study
RecruitingNCT06147414
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
RecruitingNCT07201025
Imaging Assessments of ARPKD Kidney Disease Progression
RecruitingNCT06601829
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 6 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Autosomal Recessive Polycystic Kidney Disease
Autosomal recessive polycystic kidney disease is a severe fibrocystic disorder caused by mutations in PKHD1, encoding fibrocystin/polyductin, leading to bilateral renal enlargement with collecting duct ectasia and congenital hepatic fibrosis. Severe neonatal cases present with pulmonary hypoplasia due to oligohydramnios and carry high early mortality, while milder cases surviving infancy develop progressive renal failure and hepatic complications including portal hypertension. Unlike ADPKD, both kidneys and liver are invariably affected.
Common clinical features
Massively enlarged echogenic kidneys on prenatal ultrasoundNeonatal respiratory distress (pulmonary hypoplasia)Hypertension in early childhoodProgressive chronic kidney diseaseCongenital hepatic fibrosisPortal hypertension with varicesCholangitis and biliary complications
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 1Tesevatinib
Before you apply
Things trial teams commonly ask about for Autosomal Recessive Polycystic Kidney Disease. Not eligibility rules; those are set by each study.
- Genetic confirmation of biallelic PKHD1 mutations is required for most ARPKD trials; ensure both parents are tested if de novo variants are uncertain.
- Hepatic involvement (fibrosis grade, portal pressure) is a critical co-eligibility variable, as some trials address kidney-predominant and others liver-predominant disease.
- Paediatric trials frequently have age and weight thresholds; confirm enrolment windows with the coordinating centre, especially for neonatal or early infantile cases.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).