Nephropathic cystinosis
MONDO:0100151An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.
Also known as: Abderhalden Kaufmann Lignac syndrome, Abderhalden Lignac Kaufmann disease, Abderhalden-Kaufmann-Lignac syndrome, Abderhalden-Lignac-Kaufmann disease, CTNS, cystinosis, atypical nephropathic, cystinosis, nephropathic
4 clinical trials for this condition and its sub-types.
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Broader categories
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Gene therapy may free kids from daily cystinosis meds
Disease control Recruiting nowThis study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …
Phase: PHASE1, PHASE2 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC
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Scientists investigate why cystinosis causes early aging
Knowledge-focused Recruiting nowThis study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…
Phase: NA • Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Aug 05, 2026 00:00 UTC