Fanconi renotubular syndrome
MONDO:0001083A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.
Also known as: De toni-debre-Fanconi syndrome, Fanconi syndrome, Fanconi's syndrome, Fanconi-de toni syndrome, Lignac-Fanconi syndrome, adult Fanconi syndrome, congenital Fanconi syndrome, infantile nephropathic cystinosis
4 clinical trials for this condition and its sub-types.
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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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Can home tests replace lab draws for rare disease patients?
Diagnosis Recruiting nowThis study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…
Sponsor: Connecticut Children's Medical Center • Aim: Diagnosis
Last updated Jun 27, 2026 13:01 UTC