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ORPHA:63

Alport syndrome

low confidenceDisorder

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

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

Publications

6,352

Trials

20

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

COL4A3, COL4A4, COL4A5

Definitive

Readiness

3/6

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.”

3/6 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

    6,352 matched papers (3,745 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

6,352

6,352 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=5449) is 41.

6,352 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).

3,745 in the last 10 years · low confidence

Phrase hits: 6,352 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,169

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
    Lennon R10 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
  2. 02
    Miner JH10 papers · 2026

    Division of Nephrology, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA. minerj@wustl.edu.

    Papers in Europe PMC
  3. 03
    Savige J8 papers · 2026

    University of Melbourne, Melbourne, Australia.

    Papers in Europe PMC
  4. 04
    Zhang Y8 papers · 2026

    Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

    Papers in Europe PMC
  5. 05
    Zhang J7 papers · 2026

    Department of Nephrology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  6. 06
    Gross O6 papers · 2026

    Clinic for Nephrology and Rheumatology, University Medicine Goettingen, Robert-Koch Str. 40, 37075, Goettingen, Germany. gross.oliver@med.uni-goettingen.de.

    Papers in Europe PMC
  7. 07
    Nozu K6 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Horinouchi T5 papers · 2026

    Kobe University, Kobe, Japan

    Papers in Europe PMC
  9. 09
    Kaseda S5 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
  10. 10
    Li Y5 papers · 2026

    Department of Nephrology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

    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 27 July 2026

20 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.5th percentile).

low confidence · 94.5th 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

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 2026-07-26

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"

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" OR "COL4A3" OR "COL4A4" OR "COL4A5"

Recall-expansion terms: COL4A3, COL4A4, COL4A5

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: suspect — strategies attempted: phrase, recall-expansion; 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 (6352) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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