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ORPHA:88919

Autosomal recessive Alport syndrome

high confidenceSubtype of disorder

Publications

378

81.8th percentile

Trials

2

Interventional, condition-specific

Researchers

1,227

Distinct authors in sample

Gene link

COL4A3, COL4A4

Definitive

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Alport syndrome 2, autosomal recessive · Alport syndrome, autosomal recessive

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

  2. LiteraturePresent

    378 matched papers (247 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

    2 matched on ClinicalTrials.gov (2 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).

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?

378

378 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.

378 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).

247 in the last 10 years · high confidence · 81.8th percentile (publications denominator)

Phrase hits: 378 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,227

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
    Savige J20 papers · 2026

    Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, VIC, 3050, Australia. jasavige@unimelb.edu.au.

    Papers in Europe PMC
  2. 02
    Zhang Y13 papers · 2025

    Department of Pediatrics, Peking University First Hospital, No.1 Xi An Men Da Jie, Beijing, 100034, People's Republic of China.

    Papers in Europe PMC
  3. 03
    Nozu K11 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Ding J10 papers · 2023

    Department of Pediatrics, Peking University First Hospital, No.1 Xi An Men Da Jie, Beijing, 100034, People's Republic of China. djnc_5855@126.com.

    Papers in Europe PMC
  5. 05
    Gross O8 papers · 2026

    Clinic for Nephrology and Rheumatology, University Medical Center Göttingen, 37075 Göttingen, Germany.

    Papers in Europe PMC
  6. 06
    Yamamura T8 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Zhang H8 papers · 2026

    Department of Pediatrics, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Lennon R7 papers · 2026

    Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom.

    Papers in Europe PMC
  9. 09
    Miner JH7 papers · 2026

    Renal Division, Washington University School of Medicine, Saint Louis, Missouri.

    Papers in Europe PMC
  10. 10
    Wang F7 papers · 2023

    Department of Pediatrics, Peking University First Hospital, No.1 Xi An Men Da Jie, Beijing, 100034, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 18 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

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: Alport syndrome

18

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

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.

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.

"Autosomal recessive Alport syndrome" OR "Alport syndrome 2, autosomal recessive" OR "Alport syndrome, autosomal recessive"

Run this search on Europe PMC

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

"Autosomal recessive Alport syndrome" OR "Alport syndrome 2, autosomal recessive" OR "Alport syndrome, autosomal recessive" OR "COL4A3" OR "COL4A4"

Recall-expansion terms: COL4A3, COL4A4

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Alport syndrome"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T03:25:46.303Z