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ORPHA:93600

Primary hyperoxaluria type 3

low confidenceSubtype of disorder

Publications

1,464

Trials

4

Interventional, condition-specific

Researchers

908

Distinct authors in sample

Gene link

HOGA1

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — HOGA1

  2. LiteraturePresent

    1,464 matched papers (1,039 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Increased urine 4-hydroxy-2-oxoglutarate level; Hyperoxaluria; Calcium oxalate nephrolithiasis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

12

Associated phenotypes · MONDO:0013327

  • Increased urine 4-hydroxy-2-oxoglutarate level
  • Hyperoxaluria
  • Calcium oxalate nephrolithiasis

Showing 3 of 12 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0013327

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,464

1,464 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,464 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).

1,039 in the last 10 years · low confidence

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 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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 (1)

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 Primary hyperoxaluria type 3 — 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.

("Primary hyperoxaluria type 3" OR "HOGA1 primary hyperoxaluria" OR "primary hyperoxaluria caused by mutation in HOGA1" OR "primary hyperoxaluria type III") OR ("HOGA1" OR "HOGA1 syndrome" OR "HOGA1-related")

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"

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: 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
  • Publication count (1464) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T04:27:10.753Z