ORPHA:653722
Digenic Alport syndrome
Publications
30
43.1th percentile
Trials
0
Interventional, condition-specific
Researchers
284
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0958104
- UMLS:C5925113
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
30 matched papers (29 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; 20 for broader category Alport 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
30
30 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.
30 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).
29 in the last 10 years · high confidence · 43.1th percentile (publications denominator)
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
284
Distinct author names in 30 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.
- 01Savige J9 papers · 2025
Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, Australia.
Papers in Europe PMC - 02Nozu K4 papers · 2025
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 03Cerkauskaite A3 papers · 2022
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Papers in Europe PMC - 04Cerkauskiene R3 papers · 2025
Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Papers in Europe PMC - 05Horinouchi T3 papers · 2025
Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
Papers in Europe PMC - 06Renieri A3 papers · 2022
Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy. alessandra.renieri@unisi.it.
Papers in Europe PMC - 07Yamamura T3 papers · 2025
Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
Papers in Europe PMC - 08Zhang Y3 papers · 2025
Department of Pediatrics, Peking University First Hospital, No. 1 Xi An Men Da Jie, Beijing, 100034, China.
Papers in Europe PMC - 09Ars E2 papers · 2022
Molecular Biology Laboratory, Fundacio Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autonoma de Barcelona, Instituto de Investigación Carlos III, Barcelona, Spain.
Papers in Europe PMC - 10Chin HL2 papers · 2025
Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
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). 20 trials are registered for Alport 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.
20 interventional trials matched Alport syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Alport syndrome
20
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
- NCT06731192·NOT YET RECRUITING·Human Umbilical Cord Mesenchymal Stem Cells for Alport Syndrome
Conditions: Alport Syndrome·Matched via name phrase
- NCT07523581·RECRUITING·EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety
Conditions: Alport Syndrome, X-Linked · Alport Syndrome, Autosomal Recessive·Matched via name phrase
- NCT05003986·RECRUITING·Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases
Conditions: Focal Segmental Glomerulosclerosis · Minimal Change Disease · Immunoglobulin A Nephropathy · IgA Vasculitis·Matched via name phrase
- NCT04571658·RECRUITING·NEPTUNE Match Study
Conditions: Nephrotic Syndrome in Children · Focal Segmental Glomerulosclerosis · Minimal Change Disease · Minimal Change Nephrotic Syndrome·Matched via name phrase
- NCT05133050·NOT YET RECRUITING·Safety and Efficacy of ACEI in Alport Syndrome Patients With COL4A3/COL4A4/COL4A5 Variants
Conditions: Alport Syndrome·Matched via name phrase
- NCT07211685·RECRUITING·A Study to Learn About How Well BAY 3401016 Works in Adults With Alport Syndrome
Conditions: Alport Syndrome·Matched via name phrase
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.
"Digenic Alport syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Digenic Alport syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Alport 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 2026-07-27T19:58:21.443Z