Nephronophthisis 1
MONDO:0009728Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
Also known as: NPH1, NPHP1, NPHP1 nephronophthisis (disease), familial juvenile nephronophthisis, juvenile nephronophthisis, nephronophthisis (disease) caused by mutation in NPHP1, nephronophthisis 1, nephronophthisis 1, juvenile
5 clinical trials for this condition and its sub-types.
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Scientists hunt for early warning signs of kidney failure in rare genetic diseases
Knowledge-focused CompletedThis completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
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150 patients tracked to map rare kidney disease's long-term damage
Knowledge-focused CompletedThis study followed 150 people with a confirmed genetic form of nephronophthisis, a rare kidney disease, to see how it progresses over the long term. Researchers tracked both kidney function and damage to other organs. The goal was to better understand the disease's natural histo…
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC