Cystinuria
MONDO:0009067Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.
Also known as: cystinuria, cystinuria (disease), cystinuria-lysinuria syndrome, CSNU, cystinuria, type A/B, cystinuria, type B, cystinuria, type I, cystinuria, type I, formerly
39 clinical trials for this condition and its sub-types.
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Broader categories
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Natural supplement aims to stop painful kidney stones
Disease control CompletedThis study tests whether taking a daily alpha lipoic acid supplement can reduce the return of cystine kidney stones in people with cystinuria. Half of the 50 participants will take 1200 mg of the supplement daily for three years, and the other half will take a placebo. The main g…
Phase: PHASE2 • Sponsor: Thomas Chi, MD • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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New chemo combo may lower death risk in child stem cell transplants
Disease control CompletedThis study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…
Phase: PHASE2 • Sponsor: medac GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Could a diabetes drug stop painful kidney stones?
Disease control CompletedThis study tested whether a diabetes drug (SGLT2 inhibitor) could prevent cystine kidney stones in people with cystinuria, a genetic condition that causes painful, recurring stones. Ten adults took the drug to see if it would add glucose to their urine and stop cystine from formi…
Phase: PHASE2 • Sponsor: University of California, San Francisco • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
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Sweat sensor could replace needles for kidney patients
Diagnosis CompletedThis study tested a new wearable patch that collects sweat to measure sodium and creatinine levels, which are important for monitoring kidney health and dehydration. Five adults with kidney disease wore the patch while their sweat was analyzed using a special light-based techniqu…
Phase: NA • Sponsor: Korea University • Aim: Diagnosis
Last updated Jun 27, 2026 08:11 UTC
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New metabolomic test could spot rare metabolic diseases faster
Diagnosis CompletedThis study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…
Sponsor: Mayo Clinic • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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New registry tracks pregnancy in women with rare metabolic diseases
Knowledge-focused CompletedThis study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Study reveals HPV vaccine gaps in teens with chronic illness
Knowledge-focused CompletedThis study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC