Nephropathic cystinosis

MONDO:0100151

An 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, 4 tagged with Nephropathic cystinosis itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (999) ↑ Cystinosis (12)

Sub-types of Nephropathic cystinosis

Juvenile nephropathic cystinosis 0 trials
Nephropathic infantile cystinosis 0 trials

Including sub-types (4) Tagged with Nephropathic cystinosis (4)

Trials to join now! 2 Not yet finished but already full! 1 Completed 1

New cystinosis drug shows promise in early trial

Disease control Ongoing

This study tests a new oral solution called NPI-001 in people with cystinosis, a rare disease that causes cystine buildup in cells. Researchers want to see if NPI-001 is safe and works better than the current drug cysteamine. About 12 participants aged 10 and older will stop thei…

Phase 1/2 • Sponsor: Nacuity Pharmaceuticals, Inc. • Aim: Disease control

Last updated Jul 02, 2026 00:00 UTC

Nephropathic cystinosis

Where it sits in the disease tree

New cystinosis drug shows promise in early trial