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
Clinical Trial Eligibility Tips
What to know before applying to Nephronophthisis trials.
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.
Patient Resources
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