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ORPHA:702

Pelizaeus-Merzbacher disease

medium confidenceDisorder

Also known as: Diffuse familial brain sclerosis · PMD · Pelizaeus-Merzbacher brain sclerosis · Sudanophilic leukodystrophy, Paelizeus-Merzbacher type

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

Publications

1,930

92.3th percentile

Trials

3

Interventional, condition-specific

Researchers

1,190

Distinct authors in sample

Gene link

PLP1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by , nystagmus, , spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

HLD1 · Pelizaeus-Merzbacher disease, X-linked recessive · Pelizaeus-Merzbacher spectrum disorder · diffuse familial brain sclerosis · sudanophilic leukodystrophy, Paelizeus-Merzbacher type

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PLP1

  2. LiteraturePresent

    1,930 matched papers (769 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (2 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 (PLP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,930

1,930 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=5449) is 41.

1,930 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

769 in the last 10 years · medium confidence · 92.3th percentile (publications denominator)

Phrase hits: 1,930 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,190

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
    Wang J10 papers · 2025

    Department of Anesthesiology and Perioperative Medicine, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, China; Key Laboratory of Anesthesiology (The Fourth Military Medical University), Ministry of Education of China, Xi'an, 710032, China.

    Papers in Europe PMC
  2. 02
    Miyamoto Y9 papers · 2026

    Laboratory of Molecular Neurology, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan.

    Papers in Europe PMC
  3. 03
    Inoue K8 papers · 2026

    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, 187-0031, Japan.

    Papers in Europe PMC
  4. 04
    Yamauchi J8 papers · 2026

    Laboratory of Molecular Neurology, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan. yamauchi@toyaku.ac.jp.

    Papers in Europe PMC
  5. 05
    Bernard G7 papers · 2026

    Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Department of Pediatrics, McGill University, Montréal, Québec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, Québec, Canada. Electronic address: genevieve.bernard@mcgill.ca.

    Papers in Europe PMC
  6. 06
    Jiang Y6 papers · 2026

    Department of Neurology, The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

    Papers in Europe PMC
  7. 07
    Vanderver A6 papers · 2026

    Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  8. 08
    Wolf NI6 papers · 2026

    Amsterdam Leukodystrophy Centre, Department of Child Neurology, Emma Children's Hospital, and Amsterdam Neuroscience, Amsterdam University Medical Center, Vrije Universiteit, Amsterdam 1105 AZ, the Netherlands.

    Papers in Europe PMC
  9. 09
    Ji H5 papers · 2022

    Department of Pediatrics, Peking University First Hospital, No. 1 Xi'an Men Street, West District, Beijing, 100034, China.

    Papers in Europe PMC
  10. 10
    Tonduti D5 papers · 2026

    Unit of Pediatric Neurology, C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

medium confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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 disease" OR "Diffuse familial brain sclerosis" OR "Pelizaeus-Merzbacher brain sclerosis" OR "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" OR "Pelizaeus-Merzbacher disease, X-linked recessive" OR "Pelizaeus-Merzbacher spectrum disorder"

Run this search on Europe PMC

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

"Pelizaeus-Merzbacher disease" OR "Diffuse familial brain sclerosis" OR "Pelizaeus-Merzbacher brain sclerosis" OR "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" OR "Pelizaeus-Merzbacher disease, X-linked recessive" OR "Pelizaeus-Merzbacher spectrum disorder" OR "PLP1"

Recall-expansion terms: PLP1

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: 3 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PMD; HLD1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:57:17.539Z