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A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
Biomarker and diagnostic research for polycystic kidney disease has been reported in the published literature.
55 clinical trials registered, 27 recruiting. Interventions under study include other interventions, drug therapy, biologic therapy, and medical devices. Pipeline includes 1 PHASE3, 7 PHASE2, 13 PHASE1. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT01401998](https://clinicaltrials.gov/study/NCT01401998) |
Data assembled from 3 of 12 sources · Last updated Nov 3, 2026, 6:00 AM UTC
Genetic and Rare Diseases Info Center
ARPKD Database Study |
— |
Children's Hospital of Philadelphia |
RECRUITING |
[NCT04630613](https://clinicaltrials.gov/study/NCT04630613) | NOX4 and Related Biomarkers in ADPKD | — | Mayo Clinic | RECRUITING |
[NCT07201025](https://clinicaltrials.gov/study/NCT07201025) | Imaging Assessments of ARPKD Kidney Disease Progression | — | The Cleveland Clinic | RECRUITING |
[NCT00792155](https://clinicaltrials.gov/study/NCT00792155) | Polycystic Kidney Disease Data Repository | — | The Rogosin Institute | RECRUITING |
[NCT02936791](https://clinicaltrials.gov/study/NCT02936791) | Early PKD Observational Cohort Study | — | University of Kansas Medical Center | RECRUITING |
201 publications have been identified in PubMed for polycystic kidney disease. Kisho has analyzed 145 by research type. Research spans Review / Meta-Analysis (42%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (9%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 61 | 42% |
Laboratory research | 32 | 22% |
Disease patterns and progression | 13 | 9% |
Clinical study results | 11 | 8% |
Patient case studies | 9 | 6% |
Other research | 8 | 6% |
Testing and diagnosis research | 6 | 4% |
New treatment approaches | 5 | 3% |
Rangan G (2026). [PMID: 41926217](https://pubmed.ncbi.nlm.nih.gov/41926217/). *J Am Soc Nephrol*. [Review / Meta-Analysis]
Altay D (2026). [PMID: 41567255](https://pubmed.ncbi.nlm.nih.gov/41567255/). *Pediatr Gastroenterol Hepatol Nutr*. [Diagnostic / Biomarker]
Finnigan NA (2026). [PMID: 29261941](https://pubmed.ncbi.nlm.nih.gov/29261941/). *Unknown Journal*. [Epidemiology / Natural History]
Zheng Q (2026). [PMID: 41501598](https://pubmed.ncbi.nlm.nih.gov/41501598/). *Hum Mol Genet*. [Basic Science / Preclinical]
Clerici S (2026). [PMID: 41506962](https://pubmed.ncbi.nlm.nih.gov/41506962/). *Trends Mol Med*. [Review / Meta-Analysis]
Zhang W (2026). [PMID: 42193072](https://pubmed.ncbi.nlm.nih.gov/42193072/). *Curr Issues Mol Biol*. [Review / Meta-Analysis]
Shinozaki A (2026). [PMID: 41649706](https://pubmed.ncbi.nlm.nih.gov/41649706/). *Clin Exp Nephrol*. [Case Report / Case Series]
Birznieks CL (2026). [PMID: 41911082](https://pubmed.ncbi.nlm.nih.gov/41911082/). *Kidney Blood Press Res*. [Clinical Trial Publication]
Felker SA (2026). [PMID: 41277540](https://pubmed.ncbi.nlm.nih.gov/41277540/). *Genet Med*. [Epidemiology / Natural History]
Yasinoglu SA (2026). [PMID: 41071604](https://pubmed.ncbi.nlm.nih.gov/41071604/). *J Am Soc Nephrol*. [Basic Science / Preclinical]
AI-curated news mentioning polycystic kidney disease
Updated Oct 22, 2026
Investors are reassessing opportunities in kidney disease therapies, driven by new delivery strategies and regulatory clarity. ProKidney and Nephrogen's CEOs highlight the potential for commercially viable products in a historically challenging market.
A recent case report highlights the co-occurrence of aortic dissection and polycystic kidney disease, suggesting a potential link between these conditions. This discovery may prompt further research into their relationship and implications for patient management.
OMass’s molecule is vying to become an alternative to a Neurocrine Biosciences drug that is currently the only FDA-approved therapy for congenital adrenal hyperplasia. But Vertex Pharmaceuticals could also compete with a drug candidate from a recent acquisition. By Lisa Brooks, Vice President, Healthcare Partnerships · Here’s a recap of other recent life sciences financing activity: —Estuary Biotherapeutics launched, revealing $103 million in funding for two gene therapies in development for autosomal dominant polycystic kidney disease (ADPKD), an inherited progressive disorder that leads to the growth of cysts on the kidneys. An undisclosed private family fund and foundation led BrainChild’s Series A round. —Moonwalk Biosciences raised $70 million as it looks to bring obesity drug candidate MW101 into the clinic next year. The South San Francisco- and San Diego-based biotech develops small-interfering RNA that is delivered to adipose tissue to precisely modulate pathways that are different than the ones addressed by GLP-1 drugs. But Vertex Pharmaceuticals could also compete with a drug candidate from a recent acquisition. ... OMass Therapeutics now has $310 million in financing to support a pipeline led by a drug in development for a rare endocrine disorder with limited treatment options. The disease is congenital adrenal hyperplasia (CAH), an inherited condition in which patients lack an enzyme the adrenal glands need to produce key hormones. This drug came from Vertex’s recently closed $10 billion acquisition of Crinetics Pharmaceuticals. OMass’s new capital will support plans to bring OMS1620 through Phase 2 testing in CAH and ACTH-dependent Cushing’s syndrome. The Series C round announced on Oct. 15 will also support OMass’s earlier-stage assets. A drug the company describes as a potential first-in-class SLC15A4 inhibitor is in development for lupus and other diseases associated with interferon overproduction and pathogenic B-cell activation.
Estuary Biotherapeutics is seeking to address the root cause of autosomal dominant polycystic kidney disease with two gene therapy programs based on science from Yale.
Roche and Ionis Pharmaceuticals' RNA therapy, sefaxersen, demonstrated a reduction in protein levels in urine during late-stage testing, indicating potential improvements in kidney function. This progress may expedite FDA approval for the treatment of kidney disease.