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ORPHA:416

Primary hyperoxaluria

high confidenceDisorder

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

Publications

3,763

95.5th percentile

Trials

30

Interventional, condition-specific

Researchers

1,080

Distinct authors in sample

Gene link

SLC26A6

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific defects.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

hyperoxaluria, primary · primary hyperoxaluria

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

    Limited — SLC26A6

  2. LiteraturePresent

    3,763 matched papers (2,033 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

    30 matched on ClinicalTrials.gov (5 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?

Possibly — only limited evidence so far for SLC26A6.

GenCC classification: Limited.

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?

3,763

3,763 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=5449) is 41.

3,763 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).

2,033 in the last 10 years · high confidence · 95.5th percentile (publications denominator)

Phrase hits: 3,763 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,080

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
    Groothoff JW13 papers · 2026

    Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands. Electronic address: j.w.groothoff@amsterdamumc.nl.

    Papers in Europe PMC
  2. 02
    Bacchetta J12 papers · 2026

    Reference Center for Rare Renal Diseases, Pediatric Nephrology-Rheumatology-Dermatology Unit, Femme Mere Enfant Hospital, Hospices Civils de Lyon, INSERM 1033 Unit, Lyon 1 University, Bron, France.

    Papers in Europe PMC
  3. 03
    Lieske JC12 papers · 2026

    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  4. 04
    Sellier-Leclerc AL10 papers · 2026

    Hôpital Femme Mère Enfant en Centre d'Investigation Clinique INSERM, Hospices Civils de Lyon, ERKnet, Bron, France.

    Papers in Europe PMC
  5. 05
    Cellini B8 papers · 2026

    Department of Medicine and Surgery, Physiology and Biochemistry Section, University of Perugia, 06132, Perugia, Italy. Electronic address: barbara.cellini@unipg.it.

    Papers in Europe PMC
  6. 06
    Garrelfs SF8 papers · 2025

    Emma Children's Hospital, Amsterdam, the Netherlands s.f.garrelfs@amsterdamumc.nl.

    Papers in Europe PMC
  7. 07
    Gansner JM7 papers · 2026

    Alnylam Pharmaceuticals, Cambridge, Massachusetts.

    Papers in Europe PMC
  8. 08
    Lemoine S7 papers · 2026

    Nephrology, Dialysis and Renal Functional Exploration Department, CHU Lyon - Hôpital Edouard Herriot, Lyon, France.

    Papers in Europe PMC
  9. 09
    Acquaviva-Bourdain C6 papers · 2026

    Unit of Molecular Biology and Biochemistry, Lyon University Hospital, Bron, France.

    Papers in Europe PMC
  10. 10
    Ferraro PM6 papers · 2025

    UOS Terapia Conservativa Della Malattia Renale Cronica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, 00168, Rome, Italy. pietromanuel.ferraro@unicatt.it.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

30

interventional trials for this specific condition

30 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 27 July 2026

30 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.7th percentile).

high confidence · 95.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

15 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.

"Primary hyperoxaluria" OR "hyperoxaluria, primary"

Run this search on Europe PMC

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

"Primary hyperoxaluria" OR "hyperoxaluria, primary" OR "SLC26A6"

Recall-expansion terms: SLC26A6

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: 30 interventional · 15 observational · 2 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:47:07.708Z