RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:69061

Idiopathic steroid-sensitive nephrotic syndrome

high confidenceDisorder

Publications

453

78.8th percentile

Trials

0

Interventional, condition-specific

Researchers

248

Distinct authors in sample

Gene link

CENPI

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary glomerulopathy of unknown cause characterized by edema, nephrotic-range proteinuria and hypoalbuminemia that responds to standard prednisone treatment within 4-6 weeks.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — CENPI

  2. LiteraturePresent

    453 matched papers (350 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Hypoalbuminemia; Hyperlipidemia; Hypercoagulability) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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; 136 for broader category nephrotic syndrome

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?

Possibly — only limited evidence so far for CENPI.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0019067

  • Hypoalbuminemia
  • Hyperlipidemia
  • Hypercoagulability
  • Hydrocele testis
  • Allergy

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

453

453 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

453 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).

350 in the last 10 years · high confidence · 78.8th percentile (publications denominator)

Phrase hits: 38 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

248

Distinct author names in 38 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
    Kanai T9 papers · 2026

    Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

    Papers in Europe PMC
  2. 02
    Aoyagi J7 papers · 2026

    Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.

    Papers in Europe PMC
  3. 03
    Yamagata T7 papers · 2021

    Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.

    Papers in Europe PMC
  4. 04
    Odaka J6 papers · 2021

    Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan, mrjo@jichi.ac.jp.

    Papers in Europe PMC
  5. 05
    Ito T5 papers · 2021

    Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.

    Papers in Europe PMC
  6. 06
    Saito T5 papers · 2021

    Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.

    Papers in Europe PMC
  7. 07
    Momoi MY4 papers · 2015
    Papers in Europe PMC
  8. 08
    Amer YS3 papers · 2022

    Pediatrics Department, King Khalid University Hospital, King Saud University Medical City, Riyadh 11451, Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Benz MR3 papers · 2026

    Faculty of Medicine and University Hospital Cologne, Pediatric Nephrology, Children's and Adolescents' Hospital, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  10. 10
    Deschênes G3 papers · 2018

    Department of Paediatric Nephrology and mgsamps@med.umich.edu georges.deschenes@aphp.fr pierreronco@yahoo.fr.

    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). 136 trials are registered for nephrotic syndrome, 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.

high 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.

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

Broader category: nephrotic syndrome

136

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 Idiopathic steroid-sensitive nephrotic syndrome — 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.

("Idiopathic steroid-sensitive nephrotic syndrome") OR ("CENPI" OR "CENPI syndrome" OR "CENPI-related")

Run this search on Europe PMC

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

"Idiopathic steroid-sensitive nephrotic syndrome"

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

Parent-category trials query:

"nephrotic syndrome"

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 2026-07-27T01:26:48.495Z