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ORPHA:655

Nephronophthisis

medium confidenceDisorder

Publications

5,662

93th percentile

Trials

4

Interventional, condition-specific

Researchers

1,351

Distinct authors in sample

Gene link

NPHP3

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes , juvenile and late onset.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

medullary cystic kidney · nephronophthisis · nephronophthisis (disease)

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — NPHP3

  2. LiteraturePresent

    5,662 matched papers (3,416 in last 10 years) Source

  3. Phenotype characterisedPresent

    181 HPO annotations (e.g. Abnormal retinal pigmentation; Renal insufficiency; Stage 5 chronic kidney disease) Source

  4. Animal modelPresent

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (1 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 (NPHP3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

181

Associated phenotypes · MONDO:0019005

  • Abnormal retinal pigmentation
  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Cough
  • Tubular luminal dilatation

Showing 5 of 181 — open Monarch for the full list.

Animal models (Monarch / Alliance)

14

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,662

5,662 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.

5,662 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).

3,416 in the last 10 years · medium confidence · 93th percentile (publications denominator)

Phrase hits: 5,239 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,351

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
    Nozu K10 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  2. 02
    Bleyer AJ9 papers · 2026

    Section of Nephrology, Department of Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

    Papers in Europe PMC
  3. 03
    Morisada N9 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  4. 04
    Mori T8 papers · 2026

    Department of Medicine, Institute of Science Tokyo, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Kmoch S7 papers · 2026

    Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.

    Papers in Europe PMC
  6. 06
    Saunier S7 papers · 2026

    Université Paris Cité, Imagine Institute, Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris F-75015, France.

    Papers in Europe PMC
  7. 07
    Sayer JA7 papers · 2026

    Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; Renal Services, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; National Institute for Health Research, Newcastle Biomedical Research Centre, Newcastle Upon Tyne, United Kingdom. Electronic address: john.sayer@newcastle.ac.uk.

    Papers in Europe PMC
  8. 08
    Sohara E6 papers · 2026

    Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan. esohara.kid@tmd.ac.jp.

    Papers in Europe PMC
  9. 09
    Antignac C5 papers · 2026

    Inserm U1163, Laboratoire des Maladies Rénales Héréditaires, Imagine Institute, Université Paris Cité, Paris, France.

    Papers in Europe PMC
  10. 10
    Dorval G5 papers · 2026

    Inserm U1163, Laboratoire des Maladies Rénales Héréditaires, Imagine Institute, Université Paris Cité, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Nephronophthisis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

("Nephronophthisis" OR "medullary cystic kidney" OR "nephronophthisis (disease)") OR ("NPHP3" OR "NPHP3 syndrome" OR "NPHP3-related")

Run this search on Europe PMC

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

"Nephronophthisis" OR "medullary cystic kidney" OR "nephronophthisis (disease)"

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: 4 interventional · 2 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:47:31.655Z