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ORPHA:93600

Primary hyperoxaluria type 3

high confidenceSubtype of disorder

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

Publications

162

70.1th percentile

Trials

4

Interventional, condition-specific

Researchers

908

Distinct authors in sample

Gene link

HOGA1

Definitive

Readiness

3/6

Stages with a signal

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

HOGA1 primary hyperoxaluria · primary hyperoxaluria caused by mutation in HOGA1 · primary hyperoxaluria type III

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 — HOGA1

  2. LiteraturePresent

    162 matched papers (124 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

    4 matched on ClinicalTrials.gov (1 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 (HOGA1).

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?

162

162 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.

162 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).

124 in the last 10 years · high confidence · 70.1th percentile (publications denominator)

Phrase hits: 162 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

908

Distinct author names in 162 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
    Milliner DS11 papers · 2023

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  2. 02
    Hoppe B9 papers · 2025

    German Hyperoxaluria Center Bonn, Kindernierenzentrum Bonn, Bonn, Germany.

    Papers in Europe PMC
  3. 03
    Lal S8 papers · 2024

    Intestinal Failure Unit, Salford Royal NHS Foundation Trust, Stott Lane, Salford, M6 8HD, United Kingdom.

    Papers in Europe PMC
  4. 04
    Beck BB7 papers · 2025

    Institute of Human Genetics, Center for Molecular Medicine Cologne, and Center for Rare and Hereditary Kidney Disease, University Hospital of Cologne, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  5. 05
    Knight J7 papers · 2025

    Department of Urology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

    Papers in Europe PMC
  6. 06
    Lieske JC7 papers · 2023

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  7. 07
    Belostotsky R6 papers · 2021

    Shaare Zedek Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  8. 08
    Frishberg Y6 papers · 2021

    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  9. 09
    Wang C5 papers · 2025

    Department of Nephrology, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.

    Papers in Europe PMC
  10. 10
    Abraham A4 papers · 2022

    Intestinal Failure Unit, Salford Royal NHS Foundation Trust, Stott Lane, Salford, M6 8HD, United Kingdom.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 26 trials are registered for primary hyperoxaluria, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: primary hyperoxaluria

26

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

2 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.

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.

"Primary hyperoxaluria type 3" OR "HOGA1 primary hyperoxaluria" OR "primary hyperoxaluria caused by mutation in HOGA1" OR "primary hyperoxaluria type III"

Run this search on Europe PMC

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

"Primary hyperoxaluria type 3" OR "HOGA1 primary hyperoxaluria" OR "primary hyperoxaluria caused by mutation in HOGA1" OR "primary hyperoxaluria type III" OR "HOGA1"

Recall-expansion terms: HOGA1

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: 4 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"primary hyperoxaluria"

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 2026-07-27T04:27:10.753Z