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ORPHA:597623

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

medium confidenceDisorder

Publications

408

80.2th percentile

Trials

0

Interventional, condition-specific

Researchers

297

Distinct authors in sample

Gene link

IRF2BPL

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, , cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows cerebral and/or cerebellar atrophy in most cases. A less severe associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal.

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 (1)

neurodevelopmental disorder with regression, abnormal movements, loss of speech, and 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — IRF2BPL

  2. LiteraturePresent

    408 matched papers (377 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Dysmetria; Seizure; Global developmental delay) 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 trialPartial

    None under the specific name; 40 for broader category neurodevelopmental disorder

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 (IRF2BPL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0060759

  • Dysmetria
  • Seizure
  • Global developmental delay
  • Corpus callosum atrophy
  • Loss of ambulation

Showing 5 of 24 — 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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

408

408 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

408 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).

377 in the last 10 years · medium confidence · 80.2th percentile (publications denominator)

Phrase hits: 29 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

297

Distinct author names in 29 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
    Marcogliese PC4 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  2. 02
    Bellen HJ3 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, 77030, USA.

    Papers in Europe PMC
  3. 03
    Yamamoto S3 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, 77030, USA.

    Papers in Europe PMC
  4. 04
    Li Y2 papers · 2025

    Department of Pediatrics, Linyi People's Hospital, 276003, Linyi, Shandong, China.

    Papers in Europe PMC
  5. 05
    Might M2 papers · 2022

    Precision Medicine Institute, University of Alabama, Birmingham, AL 35294, USA.

    Papers in Europe PMC
  6. 06
    Pascual DM2 papers · 2026

    Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  7. 07
    Pena LDM2 papers · 2022

    Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  8. 08
    Wang Y2 papers · 2024

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  9. 09
    Wangler MF2 papers · 2021

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, 77030, USA. mw147467@bcm.edu.

    Papers in Europe PMC
  10. 10
    Zech M2 papers · 2025

    Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 40 trials are registered for neurodevelopmental disorder, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

40 interventional trials matched neurodevelopmental disorder, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: neurodevelopmental disorder

40

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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome — 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.

("IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" OR "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" OR "neurodevelopmental disorder with regression, abnormal movements, loss of the speech, and seizures") OR ("IRF2BPL" OR "IRF2BPL syndrome" OR "IRF2BPL-related")

Run this search on Europe PMC

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

"IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" OR "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" OR "neurodevelopmental disorder with regression, abnormal movements, loss of the speech, and seizures"

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

Parent-category trials query:

"neurodevelopmental disorder"

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 (408) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T18:54:40.643Z