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ORPHA:730

Autosomal dominant polycystic kidney disease

high confidenceDisorder

Also known as: ADPKD

Publications

19,964

97.4th percentile

Trials

106

Interventional, condition-specific

Researchers

1,328

Distinct authors in sample

Gene link

ALG5, ALG8, ALG9

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, renal tubular disease characterized by outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly loss of kidney function may evolve to end stage kidney disease (ESKD).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

autosomal dominant polycystic kidney disease · polycystic kidney disease, autosomal dominant

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ALG5, ALG8, ALG9, DNAJB11, IFT140…

  2. LiteraturePresent

    19,964 matched papers (11,786 in last 10 years) Source

  3. Phenotype characterisedPresent

    82 HPO annotations (e.g. Hepatic cysts; Elevated circulating creatinine concentration; Decreased glomerular filtration rate) Source

  4. Animal modelPresent

    59 genotype models (Danio rerio, Mus musculus, Rattus norvegicus) Source

  5. Orphan designationPresent

    5 FDA · 11 EMA designations (4 FDA orphan-indication approvals) — e.g. bardoxolone methyl Source

  6. Interventional trialPresent

    106 matched on ClinicalTrials.gov (20 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (ALG5, ALG8, ALG9…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

82

Associated phenotypes · MONDO:0004691

  • Hepatic cysts
  • Elevated circulating creatinine concentration
  • Decreased glomerular filtration rate
  • Hematuria
  • Abnormal urinary electrolyte concentration

Showing 5 of 82 — open Monarch for the full list.

Animal models (Monarch / Alliance)

59

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

16

Designations · 4 with FDA orphan-indication approval

  • FDA bardoxolone methylAutosomal dominant polycystic kidney disease · 2019-06-03 · Not FDA Approved for Orphan Indication
  • FDA venglustatAutosomal dominant polycystic kidney disease · 2018-05-01 · Not FDA Approved for Orphan Indication
  • FDA lixivaptanAutosomal dominant polycystic kidney disease · 2017-09-18 · Not FDA Approved for Orphan Indication
  • FDA Menadione Sodium BisulfiteAutosomal dominant polycystic kidney disease · 2014-05-14 · Not FDA Approved for Orphan Indication
  • EMA Bardoxolone methylTreatment of autosomal dominant polycystic kidney disease · 20/08/2021 · PositiveEMA designation
  • EMA adeno-associated viral vector serotype 9 containing the human CTNNB1 geneTreatment of autosomal dominant polycystic kidney disease · 18/07/2025 · PositiveEMA designation
  • EMA octreotide hydrochlorideTreatment of autosomal dominant polycystic kidney disease · 18/07/2025 · PositiveEMA designation
  • EMA 2'-O-4'-C-(S)-ethyl-P-thioadenylyl-(3'-O->5'-O)-2'-O-4'-C-(S)-ethyl-P-thioguanylyl-(3'-O->5'-O)-2'-O-methyl-P-thiocytidylyl-(3'-O->5'-O)-2'-fluoro-P-thioadenylyl-(3'-O->5'-O)-2'-fluoro-P-thiocytidylyl-(3'-O->5'-O)-2'-fluoro-P-thiouridylyl-(3'-O->5'-O)-2'-O-methyl-P-thiouridylyl-(3'-O->5'-O)-2'-O-4'-C-(S)-ethyl-P-thiouridylyl-(3'-O->5'-O)-2'-O-4'-C-(S)-ethyl-adenosineTreatment of autosomal dominant polycystic kidney disease · 13/12/2024 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

38

Drugs / clinical candidates · MONDO_0004691

CTD chemicals (MyDisease.info)

2 associated chemicals · 88 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Sirolimus · therapeutic
  • Tolvaptan · therapeutic

Pathways: N-Glycan biosynthesis; Metabolic pathways; PPAR signaling pathway; MAPK signaling pathway; ErbB signaling pathway; Cell cycle; Protein processing in endoplasmic reticulum; PI3K-Akt signaling pathway

MyDisease.info · MONDO:0004691

Literature

Is anyone studying this?

19,964

19,964 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

19,964 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

11,786 in the last 10 years · high confidence · 97.4th percentile (publications denominator)

Phrase hits: 18,151 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,328

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Chebib FT8 papers · 2026

    Division of Nephrology and Hypertension, Mayo Clinic, Jacksonville, FL, USA.

    Papers in Europe PMC
  2. 02
    Torres VE6 papers · 2026

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  3. 03
    Harris PC5 papers · 2026

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  4. 04
    Li X5 papers · 2026

    Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  5. 05
    Wallace DP5 papers · 2026

    Jared Grantham Kidney Institute, University of Kansas Medical Center, 5040 WHE, 3901 Rainbow Blvd, Kansas City, KS, USA.

    Papers in Europe PMC
  6. 06
    Chapman AB4 papers · 2026

    Division of Nephrology, University of Chicago School of Medicine, Chicago, Illinois.

    Papers in Europe PMC
  7. 07
    Chonchol M4 papers · 2026

    University of Colorado, School of Medicine, Aurora, Colorado, USA.

    Papers in Europe PMC
  8. 08
    Ergul M4 papers · 2026

    Department of Internal Medicine, Division of Nephrology, Faculty of Medicine, Kocaeli University, 41001 Kocaeli, Turkey;

    Papers in Europe PMC
  9. 09
    Hoshino J4 papers · 2026

    Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.

    Papers in Europe PMC
  10. 10
    Li LX4 papers · 2026

    Department of Internal Medicine, Mayo Clinic, and Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

106

interventional trials for this specific condition

106 interventional trials matched this specific condition name; 20 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

106 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.6th percentile).

high confidence · 98.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

106 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

40 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 24 · after dedupe 23 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 22 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (22)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autosomal dominant polycystic kidney disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Autosomal dominant polycystic kidney disease" OR "ADPKD" OR "polycystic kidney disease, autosomal dominant") OR ("ALG5" OR "ALG5 syndrome" OR "ALG5-related" OR "ALG8" OR "ALG8 syndrome" OR "ALG8-related" OR "ALG9" OR "ALG9 syndrome" OR "ALG9-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant polycystic kidney disease" OR "ADPKD" OR "polycystic kidney disease, autosomal dominant"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 106 interventional · 40 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:05:42.210Z