RecruitingNCT02780297
Renal
Dent Disease
Also known as X-linked renal tubular disorder, CLCN5 mutation, Dent-1, low-molecular-weight proteinuria
Dent disease is an X-linked recessive disorder of proximal tubular function caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2), characterised by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis. Pr
ORPHA:1652 ↗Gene CLCN5Gene OCRLPrevalence Fewer than 1 in 200,000; predominantly affects malesOnset Childhood (typically detected in first decade)
6
studies recruiting now
as of 7 Sept 2026
14
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
8 Jun 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT02026388
Rare Kidney Stone Consortium Biobank
RecruitingNCT00588562
Rare Kidney Stone Consortium Patient Registry
RecruitingNot applicableNCT07632443
PMCF Study on The Performance and Safety of ON DENT® PMMA Discs/Blocks and Resin Products for Temporary Restorations
RecruitingNCT03305835
Monogenic Kidney Stone - Genetic Testing
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 6 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Dent Disease study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: Rare Kidney Disease Registry (RKD Registry) · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Dent Disease
Dent disease is an X-linked recessive disorder of proximal tubular function caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2), characterised by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis. Progressive renal failure develops in approximately 30–50% of affected males by the 3rd–5th decade, while female carriers typically manifest only mild tubular dysfunction. Dent-2 disease overlaps with Lowe syndrome and may include mild intellectual disability and cataracts.
Common clinical features
Low-molecular-weight proteinuria (alpha-1-microglobulin, beta-2-microglobulin)HypercalciuriaNephrocalcinosisNephrolithiasis (calcium oxalate or calcium phosphate stones)Rickets or osteomalacia (Fanconi syndrome features)Progressive chronic kidney disease in malesHaematuria
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Dent Disease. Not eligibility rules; those are set by each study.
- Urine protein electrophoresis confirming low-molecular-weight proteinuria pattern, combined with CLCN5 or OCRL genetic testing, is required for a confirmed diagnosis needed for trial enrolment.
- Female carriers have variable expression; some trials restrict enrolment to hemizygous males; clarify sex-based eligibility criteria before applying.
- Renal function trajectory and calcium handling indices (24-hour urine calcium, spot urine calcium:creatinine) are key outcome measures; obtain a structured historical dataset from your nephrologist.
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).