RecruitingNCT02780297
Renal
Cystinuria
Also known as cystine urolithiasis, SLC3A1/SLC7A9 deficiency, recurrent cystine stones
Cystinuria is an autosomal recessive disorder of renal tubular transport affecting the reabsorption of cystine and dibasic amino acids, resulting in abnormally high urinary cystine excretion and recurrent cystine kidney stone formation. Cys
ORPHA:214 ↗Gene SLC3A1Gene SLC7A9Prevalence Approximately 1 in 7,000Onset Childhood to early adulthood (first stone event often in 2nd decade)
5
studies recruiting now
as of 7 Sept 2026
24
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
4 Oct 2023
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT02026388
Rare Kidney Stone Consortium Biobank
RecruitingNCT00588562
Rare Kidney Stone Consortium Patient Registry
RecruitingNCT03305835
Monogenic Kidney Stone - Genetic Testing
RecruitingNCT06065852
National Registry of Rare Kidney Diseases
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Cystinuria
Cystinuria is an autosomal recessive disorder of renal tubular transport affecting the reabsorption of cystine and dibasic amino acids, resulting in abnormally high urinary cystine excretion and recurrent cystine kidney stone formation. Cystine stones are characteristically radiopaque, large, staghorn-forming, and resistant to extracorporeal shockwave lithotripsy, frequently requiring urological intervention. Chronic stone burden and obstructive nephropathy contribute to progressive renal impairment in many patients.
Common clinical features
Recurrent cystine nephrolithiasis (often from childhood)Renal colic and flank painHaematuriaUrinary tract infectionsObstructive nephropathyStaghorn calculi on imagingProgressive decline in renal function with repeated obstruction
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 approved treatments and 2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Penicillamine (Cuprimine)Approved: Tiopronin (Acadione)
Phase 2Bucillamine
Phase 2Dapagliflozin (Dapagliflozin component of br1019)
Before you apply
Things trial teams commonly ask about for Cystinuria. Not eligibility rules; those are set by each study.
- Urinary cystine quantification (24-hour urine cystine excretion) is the central biomarker for both diagnosis and trial eligibility; establish reliable baseline measurements.
- Stone analysis confirming cystine composition, along with SLC3A1 or SLC7A9 genotyping, strengthens eligibility for genotype-specific studies.
- Fluid intake and urinary pH are modifiable variables that affect stone risk; trials may specify minimum urine output targets as inclusion criteria or ask that current urine alkalinisation therapy be documented.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).