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ORPHA:63

Alport syndrome

low confidenceDisorder

Also known as: Alport deafness-nephropathy · Alport hearing loss-nephropathy

Publications

10,998

Trials

20

Interventional, condition-specific

Researchers

1,257

Distinct authors in sample

Gene link

COL4A3, COL4A4, COL4A5

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.

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.

Additional Mondo synonyms (1)

Alport's syndrome

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — COL4A3, COL4A4, COL4A5

  2. LiteraturePresent

    10,998 matched papers (7,181 in last 10 years) Source

  3. Phenotype characterisedPresent

    102 HPO annotations (e.g. Bilateral sensorineural hearing impairment; Hearing impairment; Proteinuria) Source

  4. Animal modelPresent

    20 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 6 EMA designations (1 FDA orphan-indication approval) — e.g. bardoxolone methyl Source

  6. Interventional trialPresent

    20 matched on ClinicalTrials.gov (6 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 (COL4A3, COL4A4, COL4A5).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

102

Associated phenotypes · MONDO:0018965

  • Bilateral sensorineural hearing impairment
  • Hearing impairment
  • Proteinuria
  • Thin glomerular basement membrane
  • Microscopic hematuria

Showing 5 of 102 — open Monarch for the full list.

Animal models (Monarch / Alliance)

20

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)

7

Designations · 1 with FDA orphan-indication approval

  • FDA bardoxolone methylAlport Syndrome · 2017-07-03 · Not FDA Approved for Orphan Indication
  • EMA vonafexorTreatment of Alport syndrome · 25/07/2023 · PositiveEMA designation
  • EMA Bardoxolone methyl (Imbarkyd)Treatment of Alport syndrome · 25/05/2018 · PositiveEMA designation
  • EMA exaluren sulfateTreatment of Alport syndrome · 25/03/2026 · PositiveEMA designation
  • EMA 5-(3,4-Dichloro-phenyl)-N-((1R,2R)-2-hydroxy-cyclohexyl)-6-(2,2,2-trifluoro-ethoxy)-nicotinamideTreatment of Alport syndrome · 20/06/2023 · PositiveEMA designation
  • EMA setanaxibTreatment of Alport syndrome · 08/11/2023 · PositiveEMA designation
  • EMA 5'-ASCSASTSCSASGSTSCSTSGSASUSASASGSCSTSA-3' (lademirsen)Treatment of Alport syndrome · 19/03/2015 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

21

Drugs / clinical candidates · MONDO_0018965

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,998

10,998 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.

10,998 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).

7,181 in the last 10 years · low confidence

Phrase hits: 6,352 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,257

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
    Miner JH9 papers · 2026

    Division of Nephrology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.

    Papers in Europe PMC
  2. 02
    Lennon R8 papers · 2026

    Manchester Cell-Matrix Centre, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, England, M13 9PT, UK.

    Papers in Europe PMC
  3. 03
    Nozu K7 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

    Papers in Europe PMC
  4. 04
    Savige J7 papers · 2026

    Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, The University of Melbourne, Parkville, Victoria, Australia.

    Papers in Europe PMC
  5. 05
    Yamamura T7 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

    Papers in Europe PMC
  6. 06
    Zhang J7 papers · 2026

    Department of Nephrology, the Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, P.R. China.

    Papers in Europe PMC
  7. 07
    Zhang Y6 papers · 2026

    Department of Nephrology, Tianjin Hospital, Tianjin University, Tianjin, China.

    Papers in Europe PMC
  8. 08
    Gale DP5 papers · 2026

    UCL Centre for Nephrology, University College, London, UK.

    Papers in Europe PMC
  9. 09
    Horinouchi T5 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

    Papers in Europe PMC
  10. 10
    Inoki Y4 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

20 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

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

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

low confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

16 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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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).

Uncertain / not reviewed (10)

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 Alport 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.

("Alport syndrome" OR "Alport deafness-nephropathy" OR "Alport hearing loss-nephropathy" OR "Alport's syndrome") OR ("COL4A3" OR "COL4A3 syndrome" OR "COL4A3-related" OR "COL4A4" OR "COL4A4 syndrome" OR "COL4A4-related" OR "COL4A5" OR "COL4A5 syndrome" OR "COL4A5-related")

Run this search on Europe PMC

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

"Alport syndrome" OR "Alport deafness-nephropathy" OR "Alport hearing loss-nephropathy" OR "Alport's syndrome"

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: 20 interventional · 16 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
  • Publication count (10998) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:17:09.576Z