ORPHA:839
Congenital nephrotic syndrome, Finnish type
Also known as: Finnish congenital nephrosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
56
39.4th percentile
Trials
0
Interventional, condition-specific
Researchers
349
Distinct authors in sample
Gene link
NPHS1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009732
- OMIM:256300
- UMLS:C0403399
- NCIT:C122795
Additional Mondo synonyms (3)
congenital nephrotic syndrome - Finnish type · congenital nephrotic syndrome, Finnish type · nephrotic syndrome - NPHS1 associated
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — NPHS1
- LiteraturePresent
56 matched papers (23 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 134 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?
Yes — we know a specific gene responsible (NPHS1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
56
56 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=5449) is 41.
56 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
23 in the last 10 years · high confidence · 39.4th percentile (publications denominator)
Phrase hits: 56 · MeSH hits: 0
Who's working on it?
349
Distinct author names in 56 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.
- 01Campbell KN2 papers · 2018
Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Papers in Europe PMC - 02Hinttala R2 papers · 2022
Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland.
Papers in Europe PMC - 03Kuure S2 papers · 2022
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.
Papers in Europe PMC - 04Mehta L2 papers · 2016
Division of Medical Genetics, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, New York, NY, USA.
Papers in Europe PMC - 05Schneidman-Duhovny D2 papers · 2016
Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.
Papers in Europe PMC - 06Sipilä P2 papers · 2022
Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20014 Turku, Finland.
Papers in Europe PMC - 07Tikhomirov E2 papers · 2009
Scientific Centre of Children Health, Genetic Group, Lomonosovsky Prospect, 2/62, 119991 Moscow, Russian Federation. tikhomirov@nczd.ru
Papers in Europe PMC - 08Tsygin A2 papers · 2009Papers in Europe PMC
- 09Uusimaa J2 papers · 2022
Children and Adolescents, Oulu University Hospital, 90029 Oulu, Finland.
Papers in Europe PMC - 10Voznesenskaya T2 papers · 2009Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 134 trials are registered for nephrotic syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
134 interventional trials matched nephrotic syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: nephrotic syndrome
134
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
- NCT06622915·RECRUITING·Cardiac Performance Evaluation in Children With Steroid Dependent vs Steroid Resistant Nephrotic Syndrome
Conditions: Nephrotic Syndrome·Matched via name phrase
- NCT07214818·RECRUITING·SGLT2 Inhibitors in Adult Primary Nephrotic Syndrome
Conditions: Nephrotic Syndrome·Matched via name phrase
- NCT06792799·RECRUITING·Anti-CD19/BCMA CAR-NK Cells in Patients With B Cell Mediated Autoimmune Disease
Conditions: Autoimmune Diseases · Systemic Lupus Erthematosus · Multi-Drug Resistant Nephrotic Syndrome · IgAN - IgA Nephropathy·Matched via name phrase
- NCT07091175·RECRUITING·Dupilumab Therapy in Nephrotic Syndrome in Children
Conditions: Nephrotic Syndrome in Children · Nephrotic Syndrome Steroid-Dependent·Matched via name phrase
- NCT07151456·NOT YET RECRUITING·Short-term gluCOCOrticoid in Adult STEROID-sensitive Nephrotic Syndrome: The COCO-ASTEROID Study
Conditions: Idiopathic Nephrotic Syndrome·Matched via name phrase
- NCT07685093·NOT YET RECRUITING·Comparison of Efficacy and Safety of Albumin Versus Fresh Frozen Plasma in Managing Diuretic Resistant Edema in Children With Idiopathic Nephrotic Syndrome.
Conditions: Idiopathic Nephrotic Syndrome (INS)·Matched via name phrase
- NCT07116239·NOT YET RECRUITING·Edoxaban Steady-State PK/PD in Adults With Nephrotic Syndrome
Conditions: Nephrotic Syndrome · Hypoalbuminemia·Matched via name phrase
- NCT06983028·RECRUITING·Atacicept in Multiple Glomerular Diseases
Conditions: pMN · IgAN · Nephrotic Syndrome · MCD·Matched via name phrase
- NCT00977977·RECRUITING·Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
Conditions: Nephrotic Syndrome · Proteinuria · Autoimmune Disease · Glomerular Disease·Matched via name phrase
- NCT06553898·RECRUITING·Study of Therapeutic Efficacy of CAR-T Cell Therapy in Patients With MDR-SRNS
Conditions: Multi-Drug Resistant Nephrotic Syndrome · CAR-T Cell Therapy·Matched via name phrase
- NCT06718894·RECRUITING·Multitarget Strategy for Primary Podocytopathies
Conditions: Nephrotic Syndrome·Matched via name phrase
- NCT05588063·RECRUITING·taVNS for FRNS in Children
Conditions: Nephrotic Syndrome in Children · Minimal Change Disease · Focal Segmental Glomerulosclerosis·Matched via name phrase
- NCT03949855·RECRUITING·Belimumab With Rituximab for Primary Membranous Nephropathy
Conditions: Membranous Nephropathy · Nephrotic Syndrome·Matched via name phrase
- NCT05850546·NOT YET RECRUITING·Rituximab in the First Episode of Paediatric Nephrotic Syndrome
Conditions: Steroid-Sensitive Nephrotic Syndrome·Matched via name phrase
- NCT05786768·RECRUITING·Efficacy and Safety of Obinutuzumab Versus Rituximab in Childhood Steroid Dependant and Frequent Relapsing Nephrotic Syndrome
Conditions: Steroid-Dependent Nephrotic Syndrome · Steroid-Sensitive Nephrotic Syndrome·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Congenital nephrotic syndrome, Finnish type" OR "Finnish congenital nephrosis" OR "congenital nephrotic syndrome - Finnish type" OR "nephrotic syndrome - NPHS1 associated"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital nephrotic syndrome, Finnish type" OR "Finnish congenital nephrosis" OR "congenital nephrotic syndrome - Finnish type" OR "nephrotic syndrome - NPHS1 associated" OR "NPHS1"
Recall-expansion terms: NPHS1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"nephrotic syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T15:36:43.503Z