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ORPHA:93592

Juvenile nephronophthisis

low confidenceSubtype of disorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,903

Trials

0

Interventional, condition-specific

Researchers

1,437

Distinct authors in sample

Gene link

NPHP1

Definitive

Readiness

5/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

NPH1 · NPHP1 · NPHP1 nephronophthisis (disease) · familial juvenile nephronophthisis · juvenile nephronophthisis · nephronophthisis (disease) caused by mutation in NPHP1 · nephronophthisis 1 · nephronophthisis 1, juvenile · nephronophthisis type 1

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — NPHP1

  2. LiteraturePresent

    1,903 matched papers (1,029 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Stage 5 chronic kidney disease; Tubular basement membrane disintegration; Anemia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 4 for broader category nephronophthisis

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 (NPHP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0009728

  • Stage 5 chronic kidney disease
  • Tubular basement membrane disintegration
  • Anemia
  • Renal tubular atrophy
  • Polydipsia

Showing 5 of 12 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

1,903

1,903 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,903 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).

1,029 in the last 10 years · low confidence

Phrase hits: 1,903 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,437

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Sun L10 papers · 2026

    Department of Pediatrics, Children's Kidney Disease Center, The First Affiliated Hospital, Sun Yat-sen University Guangzhou, Guangdong, P. R. China.

    Papers in Europe PMC
  2. 02
    Liu Y8 papers · 2025

    Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.

    Papers in Europe PMC
  3. 03
    Saunier S8 papers · 2025

    Laboratory of Hereditary Kidney Disease, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.

    Papers in Europe PMC
  4. 04
    Chen H7 papers · 2025

    Department of Pediatrics, Children's Kidney Disease Center, The First Affiliated Hospital, Sun Yat-sen University Guangzhou, Guangdong, P. R. China.

    Papers in Europe PMC
  5. 05
    Benmerah A6 papers · 2025

    Laboratory of Hereditary Kidney Disease, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.

    Papers in Europe PMC
  6. 06
    Li M6 papers · 2026

    Department of Pediatrics, Nanfang Hospital, Southern Medical University, No. 1838, North Road, Guangzhou Avenue, Guangzhou, Guangdong 510515, China.

    Papers in Europe PMC
  7. 07
    Yue Z6 papers · 2025

    Department of Pediatrics, Children's Kidney Disease Center, The First Affiliated Hospital, Sun Yat-sen University Guangzhou, Guangdong, P. R. China.

    Papers in Europe PMC
  8. 08
    Dahmer-Heath M5 papers · 2026

    Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.

    Papers in Europe PMC
  9. 09
    Lai J5 papers · 2026

    Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  10. 10
    Li Y5 papers · 2026

    Institute of Human Genetics, University Medical Center, Göttingen, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for nephronophthisis, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

4 interventional trials matched nephronophthisis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: nephronophthisis

4

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-30

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 Juvenile 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.

("Juvenile nephronophthisis" OR "NPHP1" OR "NPHP1 nephronophthisis (disease)" OR "familial juvenile nephronophthisis" OR "nephronophthisis (disease) caused by mutation in NPHP1" OR "nephronophthisis 1" OR "nephronophthisis 1, juvenile" OR "nephronophthisis type 1") OR (MESH:"Nephronophthisis, familial juvenile") OR ("NPHP1 syndrome" OR "NPHP1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Nephronophthisis, familial juvenile

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

"Juvenile nephronophthisis" OR "NPHP1" OR "NPHP1 nephronophthisis (disease)" OR "familial juvenile nephronophthisis" OR "nephronophthisis (disease) caused by mutation in NPHP1" OR "nephronophthisis 1" OR "nephronophthisis 1, juvenile" OR "nephronophthisis type 1" OR "Nephronophthisis, familial juvenile"

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

Parent-category trials query:

"nephronophthisis"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NPH1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1903) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:26:26.956Z