RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:93598

Primary hyperoxaluria type 1

low confidenceSubtype of disorder

Also known as: Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

Publications

2,514

Trials

15

Interventional, condition-specific

Researchers

1,017

Distinct authors in sample

Gene link

AGXT

Definitive

Readiness

6/6

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 (7)

AGXT primary hyperoxaluria · PH1 · glycolic aciduria · peroxisomal alanine-glyoxylate aminotransferase deficiency · primary hyperoxaluria caused by mutation in AGXT · primary hyperoxaluria type 1 · primary hyperoxaluria type I

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — AGXT

  2. LiteraturePresent

    2,514 matched papers (1,679 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Arterial occlusion; Renal insufficiency; Calcinosis cutis) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA · 2 EMA designations (none yet with FDA orphan-indication approval) — e.g. synthetic double-stranded RNA oligonucleotide specific to hydroxyacid oxidase 1 gene Source

  6. Interventional trialPresent

    15 matched on ClinicalTrials.gov (4 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 (AGXT).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

47

Associated phenotypes · MONDO:0009823

  • Arterial occlusion
  • Renal insufficiency
  • Calcinosis cutis
  • Dehydration
  • Optic atrophy

Showing 5 of 47 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

3

Designations · no FDA orphan-indication approval yet

  • EMA synthetic double-stranded RNA oligonucleotide specific to hydroxyacid oxidase 1 geneTreatment of primary hyperoxaluria type 1 · 28/07/2015 · WithdrawnEMA designation
  • EMA adeno-associated viral vector of serotype 5 containing the human alanine-glyoxylate-aminotransferase geneTreatment of primary hyperoxaluria type 1 · 21/03/2012 · WithdrawnEMA designation
  • FDA lumasiran (Oxlumo)primary hyperoxaluria type 1 · 2016-02-08

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0009823

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,514

2,514 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.

2,514 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).

1,679 in the last 10 years · low confidence

Phrase hits: 1,595 · MeSH hits: 25

Open Europe PMC search

Who's working on it?

1,017

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 JW15 papers · 2026

    Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Sellier-Leclerc AL13 papers · 2026

    Hôpital Femme Mère Enfant en Centre d'Investigation Clinique, Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon, ERKnet, 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
    Pey AL10 papers · 2026

    Department of Physical Chemistry, University of Granada, Granada, Spain. Electronic address: angelpey@ugr.es.

    Papers in Europe PMC
  5. 05
    Bacchetta J9 papers · 2026

    Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Centre de Référence des Maladies Rénales Rares Néphrogones, Filières Maladies Rares ORKID et ERK-Net, CHU de Lyon, Bron, France.

    Papers in Europe PMC
  6. 06
    Cellini B9 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
  7. 07
    Frishberg Y9 papers · 2026

    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

    Papers in Europe PMC
  8. 08
    Garrelfs SF9 papers · 2025

    Departments of Pediatrics, Emma Children's Hospital, Section Pediatric Nephrology & Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Gansner JM8 papers · 2026

    Alnylam Pharmaceuticals, Cambridge, Massachusetts.

    Papers in Europe PMC
  10. 10
    Salido E8 papers · 2026

    Department of Pathology, Center for Biomedical Research on Rare Diseases, Hospital Universitario Canarias, Universidad La Laguna, Tenerife, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 15 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

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

low confidence · 94th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: primary hyperoxaluria

15

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

4 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

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 1 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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 1" OR "Glycolic aciduria" OR "Peroxisomal alanine-glyoxylate aminotransferase deficiency" OR "AGXT primary hyperoxaluria" OR "primary hyperoxaluria caused by mutation in AGXT" OR "primary hyperoxaluria type I") OR (MESH:"Primary hyperoxaluria type 1") OR ("AGXT" OR "AGXT syndrome" OR "AGXT-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Primary hyperoxaluria type 1

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

"Primary hyperoxaluria type 1" OR "Glycolic aciduria" OR "Peroxisomal alanine-glyoxylate aminotransferase deficiency" OR "AGXT primary hyperoxaluria" OR "primary hyperoxaluria caused by mutation in AGXT" OR "primary hyperoxaluria type I"

Interventional trials matched via: both, 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: 15 interventional · 4 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"primary hyperoxaluria"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PH1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2514) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T04:26:45.568Z