Renal tubular transport disease
MONDO:0006510Genetic defects in the selective or non-selective transport functions of the kidney tubules.
Also known as: disorder of renal absorption, renal absorption disease, kidney tubular transport, inborn error, kidney tubular transport, inborn errors, renal tubular transport errors, renal tubular transport, inborn error
17 clinical trials for this condition and its sub-types, 0 tagged with Renal tubular transport disease itself.
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Sub-types of Renal tubular transport disease
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Dent disease 5 trials
2 sub-types
- Dent disease type 1 0 trials
- Dent disease type 2 0 trials
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Pseudohypoaldosteronism 3 trials · 5 incl. sub-types
2 sub-types
- Inherited pseudohypoaldosteronism 0 trials · 4 incl. sub-types Sub-types →
- Transient pseudohypoaldosteronism 0 trials
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Fanconi renotubular syndrome 4 trials
4 sub-types
- Deal Barratt Dillon syndrome 0 trials
- Acquired Fanconi syndrome 0 trials Sub-types →
- Adult Fanconi syndrome 0 trials
- Inherited Fanconi renotubular syndrome 0 trials Sub-types →
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Renal tubular acidosis 2 trials
5 sub-types
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Liddle syndrome 1 trial
3 sub-types
- Liddle syndrome 1 0 trials
- Liddle syndrome 2 0 trials
- Liddle syndrome 3 0 trials
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Renal hypomagnesemia 3 1 trial
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Bartter syndrome 0 trials
6 sub-types
- Bartter disease type 1 0 trials
- Bartter disease type 2 0 trials
- Bartter disease type 3 0 trials
- Bartter disease type 5 0 trials
- Bartter syndrome type 4 0 trials Sub-types →
- Bartter syndrome with hypocalcemia 0 trials
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Gitelman syndrome 0 trials
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Familial renal glucosuria 0 trials
Most studied deeper 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 1/2 • 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
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Can blood and urine markers reveal how rare kidney diseases progress?
Knowledge-focused Recruiting nowThis study follows people with rare inherited forms of kidney stones and chronic kidney disease, such as primary hyperoxaluria, cystinuria, and Dent disease, to learn how these conditions develop over time. Researchers will measure markers of inflammation in blood and urine and t…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Aug 09, 2026 00:00 UTC
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Could a biobank unlock secrets of rare kidney stone diseases?
Knowledge-focused Recruiting nowThis study creates a biobank of blood, urine, and tissue samples from people with rare kidney stone diseases—primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease—and their family members. By storing these samples, researchers hope to enable future studies that cou…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jul 24, 2026 00:00 UTC
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Global registry aims to crack the code of rare kidney stone diseases
Knowledge-focused Recruiting nowThis study collects medical information from people around the world who have one of four rare hereditary kidney stone diseases: primary hyperoxaluria, Dent disease, cystinuria, or APRT deficiency. By gathering data from many patients, researchers hope to better understand how th…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jul 12, 2026 00:00 UTC
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Scientists hunt for kidney stone genes in 6,000-Person study
Knowledge-focused Recruiting nowThis study aims to find the specific genes and mutations that cause rare, inherited forms of kidney stone disease. Researchers will analyze DNA from up to 6,000 participants to understand how these genetic changes lead to stones. The goal is to use this knowledge to develop bette…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC