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ORPHA:79096

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

low confidenceDisorder

Also known as: P5PD-DEE · PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures · Pyridoxal phosphate-responsive seizures · Pyridoxamine 5'-phosphate oxidase deficiency

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

Publications

35,669

Trials

1

Interventional, condition-specific

Researchers

1,181

Distinct authors in sample

Gene link

PNPO

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A very rare epileptic disorder characterized clinically by onset of severe within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

PNPO deficiency · pyridox(am)ine 5’-phosphate oxidase deficiency · pyridoxal phosphate-dependent seizures · pyridoxamine 5'-phosphate oxidase deficiency · pyridoxine 5' phosphate oxidase deficiency

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 — PNPO

  2. LiteraturePresent

    35,669 matched papers (20,479 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Global developmental delay; Failure to thrive; Abnormality of the amniotic fluid) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio) Source

  5. Orphan designationPartial

    3 EMA designations (none yet with FDA orphan-indication approval) — e.g. pyridoxal 5'-phosphate Source

  6. Interventional trialPresent

    1 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 (PNPO).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

46

Associated phenotypes · MONDO:0012407

  • Global developmental delay
  • Failure to thrive
  • Abnormality of the amniotic fluid
  • Premature birth
  • Metabolic acidosis

Showing 5 of 46 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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 pyridoxal 5'-phosphateTreatment of pyridoxamine 5'-phosphate oxidase deficiency · 24/02/2022 · PositiveEMA designation
  • EMA pyridoxal 5'-phosphateTreatment of pyridoxamine 5'-phosphate oxidase deficiency · 22/02/2018 · PositiveEMA designation
  • EMA pyridoxal 5'-phosphateTreatment of pyridoxamine 5'-phosphate oxidase deficiency · 15/10/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0012407

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

35,669

35,669 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

35,669 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).

20,479 in the last 10 years · low confidence

Phrase hits: 292 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,181

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
    Clayton PT11 papers · 2026

    Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH. peter.clayton@ucl.ac.uk.

    Papers in Europe PMC
  2. 02
    Plecko B11 papers · 2025

    From the Department of Pediatrics (B.P., L.A.), Division of Child Neurology, University Hospital Zurich, Switzerland; the Department of Pediatrics (B.P.), Division of Neurology and Inborn Errors of Metabolism, Medical University Graz, Austria; radiz-"Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich" (B.P., L.A.); CRC Clinical Research Center (B.P.), University Childrens' Hospital Zurich, Switzerland; the Laboratory of Metabolic Diseases (K.P., E.P., D.H.), Department of Pediatrics, University Hospital Graz, Austria; UCL Institute of Child Health (P.M., P.C.), Clinical and Molecular Genetics Unit, London, UK; Childrens Hospital St. Gallen (O.M., O.H.), Switzerland; the Department of Pediatrics (G.H.), Klinikum Esslingen; the Department of Pediatrics (S.K.), St. Marien Hospital, Landshut, Germany; the Division of Child Neurology (M.C.) and Division of Biochemical Diseases (S.S.), Department of Pediatrics, University of British Columbia, Vancouver, Canada; the Department of Pediatrics, Division of Child Neurology (N.W.), VU University Medical Center and Neuroscience Campus Amsterdam; and the Department of Clinical Chemistry (E.S.), Vrije Universiteit Amsterdam, the Netherlands.

    Papers in Europe PMC
  3. 03
    Zhuang X10 papers · 2026

    Department of Neurobiology, University of Chicago, Chicago, Illinois 60637 xzhuang@bsd.uchicago.edu.

    Papers in Europe PMC
  4. 04
    Chi W9 papers · 2026

    The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA. wanhao.chi@northwestern.edu.

    Papers in Europe PMC
  5. 05
    Clayton P9 papers · 2026

    UCL Institute of Child Health, London, UK.

    Papers in Europe PMC
  6. 06
    Mills PB9 papers · 2026

    Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.

    Papers in Europe PMC
  7. 07
    van Karnebeek CDM7 papers · 2024

    Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands. clara.vankarnebeek@radboudumc.nl.

    Papers in Europe PMC
  8. 08
    Contestabile R6 papers · 2024

    Dipartimento di Scienze Biochimiche "A. Rossi Fanelli", Sapienza Università di Roma, Italy.

    Papers in Europe PMC
  9. 09
    di Salvo ML6 papers · 2024

    Dipartimento di Scienze Biochimiche "A. Rossi Fanelli", Sapienza Università di Roma, Italy.

    Papers in Europe PMC
  10. 10
    Fu W6 papers · 2026

    Department of Neurobiology, University of Chicago, Chicago, IL 60637.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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

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 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy — 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.

("Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy" OR "P5PD-DEE" OR "PNPO-related neonatal epileptic encephalopathy" OR "Pyridoxal phosphate-dependent seizures" OR "Pyridoxal phosphate-responsive seizures" OR "Pyridoxamine 5'-phosphate oxidase deficiency" OR "PNPO deficiency" OR "pyridox(am)ine 5’-phosphate oxidase deficiency" OR "pyridoxine 5' phosphate oxidase deficiency") OR (MESH:"Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency") OR ("PNPO" OR "PNPO syndrome" OR "PNPO-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

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

"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy" OR "P5PD-DEE" OR "PNPO-related neonatal epileptic encephalopathy" OR "Pyridoxal phosphate-dependent seizures" OR "Pyridoxal phosphate-responsive seizures" OR "Pyridoxamine 5'-phosphate oxidase deficiency" OR "PNPO deficiency" OR "pyridox(am)ine 5’-phosphate oxidase deficiency" OR "pyridoxine 5' phosphate oxidase deficiency" OR "Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency"

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

Query health: suspect — strategies attempted: phrase, mesh; 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 (35669) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:56:13.871Z