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ORPHA:280282

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

medium confidenceSubtype of disorder

Also known as: PMLD1

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

Publications

663

83.1th percentile

Trials

0

Interventional, condition-specific

Researchers

267

Distinct authors in sample

Gene link

GJC2

Definitive

Readiness

4/6

Stages with a signal

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)

GJC2 leukodystrophy · HLD2 · hypomyelinating leukodystrophy type 2 · leukodystrophy caused by mutation in GJC2 · leukodystrophy, hypomyelinating, type 2

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 — GJC2

  2. LiteraturePresent

    663 matched papers (485 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Decreased motor nerve conduction velocity; Dystonia; Seizure) Source

  4. Animal modelPresent

    3 genotype models (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 (GJC2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0012125

  • Decreased motor nerve conduction velocity
  • Dystonia
  • Seizure
  • Focal impaired awareness seizure
  • Rigidity

Showing 5 of 30 — 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)

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?

663

663 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.

663 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).

485 in the last 10 years · medium confidence · 83.1th percentile (publications denominator)

Phrase hits: 43 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

267

Distinct author names in 43 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
    Abrams CK8 papers · 2025

    Department of Neurology and Rehabilitation, University of Illinois Chicago, Chicago, Illinois.

    Papers in Europe PMC
  2. 02
    Freidin MM5 papers · 2025

    Department of Neurology and Rehabilitation, University of Illinois Chicago, Chicago, Illinois.

    Papers in Europe PMC
  3. 03
    Kleopa KA4 papers · 2026

    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus.

    Papers in Europe PMC
  4. 04
    Georgiou E3 papers · 2019

    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus.

    Papers in Europe PMC
  5. 05
    Boespflug-Tanguy O2 papers · 2013

    Assistance Publique des Hopitaux de Paris (APHP), Reference Center for Rare Diseases “Leukodystrophies,” Child Neurology and Metabolic Disorders Department, Robert Debré University Hospital, Paris F-75935, France

    Papers in Europe PMC
  6. 06
    Dungan GD2 papers · 2025

    Department of Neurology and Rehabilitation, University of Illinois at Chicago College of Medicine, Chicago, Illinois, USA.

    Papers in Europe PMC
  7. 07
    Flores-Obando RE2 papers · 2022

    Department of Neurology, SUNY Downstate Medical Center, Brooklyn, New York, USA.

    Papers in Europe PMC
  8. 08
    Kagiava A2 papers · 2026

    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus.

    Papers in Europe PMC
  9. 09
    Lamantea E2 papers · 2014
    Papers in Europe PMC
  10. 10
    Papaneophytou C2 papers · 2019

    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics and Cyprus School of Molecular Medicine, Nicosia, Cyprus.

    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).

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.

Broader category Pelizaeus-Merzbacher-like disease also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: Pelizaeus-Merzbacher-like disease

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Pelizaeus-Merzbacher-like disease due to GJC2 mutation — 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.

("Pelizaeus-Merzbacher-like disease due to GJC2 mutation" OR "PMLD1" OR "GJC2 leukodystrophy" OR "hypomyelinating leukodystrophy type 2" OR "leukodystrophy caused by mutation in GJC2" OR "leukodystrophy, hypomyelinating, type 2") OR (MESH:"Leukodystrophy, Hypomyelinating, 2") OR ("GJC2" OR "GJC2 syndrome" OR "GJC2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukodystrophy, Hypomyelinating, 2

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

"Pelizaeus-Merzbacher-like disease due to GJC2 mutation" OR "PMLD1" OR "GJC2 leukodystrophy" OR "hypomyelinating leukodystrophy type 2" OR "leukodystrophy caused by mutation in GJC2" OR "leukodystrophy, hypomyelinating, type 2" OR "Leukodystrophy, Hypomyelinating, 2"

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

Parent-category trials query:

"Pelizaeus-Merzbacher-like disease"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HLD2

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

Ingested 2026-07-27T11:51:58.841Z