RecruitingPhase 1NCT07166601
Renal
Nephronophthisis
Also known as NPHP, juvenile nephronophthisis, medullary cystic kidney disease type 2
Nephronophthisis is an autosomal recessive cystic kidney disease and the most common monogenic cause of end-stage renal disease in the first three decades of life, characterised by tubulointerstitial nephritis, tubular basement membrane dis
ORPHA:655 ↗Gene NPHP1Gene NPHP3Gene NPHP4 (multiple)Prevalence Approximately 1 in 50,000–100,000; leading genetic cause of ESRD in childrenOnset Childhood to adolescence (age of ESRD varies by subtype)
4
studies recruiting now
as of 7 Sept 2026
25
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
10 Sept 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01401998
ARPKD Database Study
RecruitingNot applicableNCT06648044
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
RecruitingNCT06065852
National Registry of Rare Kidney Diseases
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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 Nephronophthisis
Nephronophthisis is an autosomal recessive cystic kidney disease and the most common monogenic cause of end-stage renal disease in the first three decades of life, characterised by tubulointerstitial nephritis, tubular basement membrane disruption, and medullary cysts. It is a ciliopathy with variable extrarenal features including retinal dystrophy (Senior-Løken syndrome), cerebellar vermis aplasia (Joubert syndrome), and liver fibrosis depending on the mutated gene. The kidneys are typically normal or small in size, distinguishing NPHP from ADPKD.
Common clinical features
Polyuria and polydipsia (tubular concentrating defect)Anaemia disproportionate to degree of renal failureProgressive chronic kidney disease leading to ESRDNormal or small-sized kidneys on ultrasoundMedullary cysts on MRIRetinal dystrophy (in Senior-Løken syndrome)Cerebellar ataxia or vermis hypoplasia (in Joubert syndrome)
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Nephronophthisis. Not eligibility rules; those are set by each study.
- NPHP gene identification is essential for syndrome classification and trial stratification; comprehensive NPHP panel testing covering all known NPHP genes (NPHP1–NPHP20+) is recommended.
- Renal function at the time of screening (eGFR) is a key eligibility variable; many trials target early to moderate CKD stages before ESRD to assess disease-modifying potential.
- Extrarenal features should be systematically documented as they may open eligibility for ciliopathy-wide trials in addition to kidney-specific studies.
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).