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ORPHA:3006

Pyridoxine-dependent-developmental and epileptic encephalopathy

low confidenceDisorder

Also known as: Antiquitin deficiency · PD-DEE · Vitamin B6-dependent seizures

Publications

2,162

Trials

0

Interventional, condition-specific

Researchers

1,051

Distinct authors in sample

Gene link

ALDH7A1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurometabolic disease characterized by recurrent intractable in the , and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

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 (3)

antiquitin deficiency · pyridoxine-dependent epilepsy · vitamin B6-dependent seizures

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — ALDH7A1

  2. LiteraturePresent

    2,162 matched papers (1,564 in last 10 years) Source

  3. Phenotype characterisedPresent

    78 HPO annotations (e.g. Neonatal respiratory distress; Restlessness; Delayed CNS myelination) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (ALDH7A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

78

Associated phenotypes · MONDO:0009945

  • Neonatal respiratory distress
  • Restlessness
  • Delayed CNS myelination
  • Multifocal epileptiform discharges
  • Focal myoclonic seizure

Showing 5 of 78 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

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_0009945

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,162

2,162 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.

2,162 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).

1,564 in the last 10 years · low confidence

Phrase hits: 740 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,051

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Coughlin CR15 papers · 2025

    Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.

    Papers in Europe PMC
  2. 02
    van Karnebeek CDM15 papers · 2025

    From the Department of Pediatrics (L.A.T., E.M.M.H.v.K., C.D.M.v.K.), Emma Children's Hospital, Amsterdam University Medical Center; On behalf of United for Metabolic Diseases (L.A.T., E.M.M.H.v.K., C.D.M.v.K.), The Netherlands; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center; Translational Metabolic Laboratory (K.L.M.C.), Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Section of Clinical Genetics and Metabolism (C.R.C.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; and Department of Pediatrics (C.D.M.v.K.), Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands. c.d.vankarnebeek@amsterdamumc.nl.

    Papers in Europe PMC
  3. 03
    Gospe SM Jr13 papers · 2026

    Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC
  4. 04
    Tseng LA10 papers · 2022

    From the Department of Pediatrics (L.A.T., E.M.M.H.v.K., C.D.M.v.K.), Emma Children's Hospital, Amsterdam University Medical Center; On behalf of United for Metabolic Diseases (L.A.T., E.M.M.H.v.K., C.D.M.v.K.), The Netherlands; Division of Medical Genetics (N.L., A.A.), Department of Pediatrics, University of Utah, Salt Lake City; Department of Gastroenterology and Hepatology (A.v.W.), Dietetics and Intestinal Failure, Radboud University Medical Center; Translational Metabolic Laboratory (K.L.M.C.), Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Section of Clinical Genetics and Metabolism (C.R.C.), Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora; and Department of Pediatrics (C.D.M.v.K.), Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

    Papers in Europe PMC
  5. 05
    Plecko B9 papers · 2023

    Department of Pediatrics, University of Zurich, Zurich, Switzerland. Electronic address: barbara.plecko@medunigraz.at.

    Papers in Europe PMC
  6. 06
    Wevers RA9 papers · 2026

    Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

    Papers in Europe PMC
  7. 07
    Bok LA8 papers · 2022

    Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.

    Papers in Europe PMC
  8. 08
    Martens J8 papers · 2026

    Institute for Molecules and Materials, FELIX Laboratory, Radboud University, Toernooiveld 7, 6525 ED Nijmegen, The Netherlands.

    Papers in Europe PMC
  9. 09
    Hartmann H7 papers · 2023

    Clinic for Paediatric Kidney, Liver, and Metabolic Disorders, Hannover Medical School, Hannover, Germany. hartmann.hans@mh-hannover.de

    Papers in Europe PMC
  10. 10
    Pearl PL7 papers · 2025

    Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 4 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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.

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 2026-07-29

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 Pyridoxine-dependent-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.

("Pyridoxine-dependent-developmental and epileptic encephalopathy" OR "Antiquitin deficiency" OR "PD-DEE" OR "Vitamin B6-dependent seizures" OR "pyridoxine-dependent epilepsy") OR ("ALDH7A1" OR "ALDH7A1 syndrome" OR "ALDH7A1-related")

Run this search on Europe PMC

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

"Pyridoxine-dependent-developmental and epileptic encephalopathy" OR "Antiquitin deficiency" OR "PD-DEE" OR "Vitamin B6-dependent seizures" OR "pyridoxine-dependent epilepsy"

Study-type breakdown: 0 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

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 (2162) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T21:59:14.815Z