RecruitingPhase 1NCT07166601
Renal
Medullary Cystic Kidney Disease
Also known as MCKD, UMOD-related nephropathy, uromodulin kidney disease
Medullary cystic kidney disease type 2 (now classified as autosomal dominant tubulointerstitial kidney disease-UMOD) is caused by mutations in UMOD encoding uromodulin (Tamm-Horsfall protein), leading to abnormal protein accumulation in tub
ORPHA:488 ↗Gene UMODPrevalence Rare; fewer than 1 in 100,000 estimatedOnset Adult (ESRD typically in 3rd–7th decade)
5
studies recruiting now
as of 7 Sept 2026
32
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
10 Sept 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01401998
ARPKD Database Study
RecruitingNot applicableNCT06648044
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
RecruitingNCT05014178
Kidney Sodium Functional Imaging
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 Medullary Cystic Kidney Disease
Medullary cystic kidney disease type 2 (now classified as autosomal dominant tubulointerstitial kidney disease-UMOD) is caused by mutations in UMOD encoding uromodulin (Tamm-Horsfall protein), leading to abnormal protein accumulation in tubular cells, progressive interstitial fibrosis, and slowly progressive renal failure. Medullary cysts are an inconstant finding and may not be visible on routine imaging, making UMOD genetic testing essential for diagnosis. Hyperuricaemia and gout are characteristic early features that may precede renal impairment by years.
Common clinical features
Hyperuricaemia and gout (often presenting manifestation)Progressive chronic kidney diseaseAnaemia disproportionate to CKD stageNormal or mildly reduced urine concentrating abilityMedullary cysts (not always present on imaging)Hypertension in advanced diseaseFamily history of renal failure and gout across generations
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Medullary Cystic Kidney Disease. Not eligibility rules; those are set by each study.
- UMOD mutation confirmation is essential since medullary cysts may be absent; genetic testing should precede renal biopsy as histological findings are non-specific.
- Serum uric acid levels and gout history are characteristic early markers; document the timeline of gout onset relative to renal impairment as this aids diagnosis and trial stratification.
- Rate of eGFR decline over several years is the most critical eligibility variable for trials targeting disease progression; compile annual creatinine records from your GP or hospital.
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).