ORPHA:280210
Pelizaeus-Merzbacher disease, connatal form
Also known as: Connatal PMD · Pelizaeus-Merzbacher disease type II · Severe PMD
Publications
124
49.9th percentile
Trials
0
Interventional, condition-specific
Researchers
787
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017221
- UMLS:C5679776
Additional Mondo synonyms (2)
connatal PMD · severe PMD
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.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
124 matched papers (59 in last 10 years) Source
- Phenotype characterisedPresent
27 HPO annotations (e.g. Gliosis; Cerebral hypomyelination; Lower limb amyotrophy) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
27
Associated phenotypes · MONDO:0017221
- Gliosis
- Cerebral hypomyelination
- Lower limb amyotrophy
- Severe intellectual disability
- Abnormal myelination
Showing 5 of 27 — 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?
124
124 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.
124 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).
59 in the last 10 years · high confidence · 49.9th percentile (publications denominator)
Phrase hits: 124 · MeSH hits: 0
Who's working on it?
787
Distinct author names in 124 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.
- 01Goldman SA6 papers · 2019
Center for Translational Neuromedicine, University of Rochester Medical Center, Rochester, NY 14642, USA; Center for Neuroscience, Faculty of Medicine and Health Sciences, University of Copenhagen, 2200 Copenhagen, Denmark.
Papers in Europe PMC - 02Hobson GM6 papers · 2019
Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA; Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA; Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Papers in Europe PMC - 03Garbern JY5 papers · 2013
Department of Neurology, Wayne State University School of Medicine, United States.
Papers in Europe PMC - 04Gow A5 papers · 2013
Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, New York 10029-6574, USA.
Papers in Europe PMC - 05Inoue K5 papers · 2019
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-machi, Kodaira-shi, Tokyo 187-8502. Electronic address: kinoue@ncnp.go.jp.
Papers in Europe PMC - 06Li Y5 papers · 2025
Departments of Structural Biology and Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Center for Proteomics and Metabolomics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Papers in Europe PMC - 07Boespflug-Tanguy O4 papers · 2022
Service de Neuropédiatrie et des Maladies Métaboliques, LEUKOFRANCE, AP-HP, Hôpital Robert Debré, 75019 Paris, France; Université de Paris, UMR1141 NeuroDiderot, INSERM, 75019 Paris, France.
Papers in Europe PMC - 08Duncan ID4 papers · 2026
Department of Medical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, United States. Electronic address: duncani@svm.vetmed.wisc.edu.
Papers in Europe PMC - 09Kamholz J4 papers · 2023
Center for Molecular Medicine and Genetics Wayne State University School of Medicine Detroit Michigan USA.
Papers in Europe PMC - 10Rowitch DH4 papers · 2019
Department of Neurological Surgery, University of California San Francisco, 550 16(th) Street, 4(th) Floor, San Francisco, CA 94143-0137, USA; Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA; Department of Paediatrics, University of Cambridge, Cambridge CB2 1TN, UK.
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.
high 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.
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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)
- ctis·2024-511968-81-00·Authorised, ongoing·A Proof-of-Concept Study to Explore the Potential Efficacy of Deferiprone in Patients With Pelizaeus-Merzbacher disease (PMD)
skipped — LLM skipped (--skip-llm)
- ctis·2022-502432-39-00·Authorised, ongoing·ION356-CS1: A Phase 1b Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Patients with Pelizaeus-Merzbacher Disease
skipped — LLM skipped (--skip-llm)
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 disease, connatal form — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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, connatal form" OR "Connatal PMD" OR "Pelizaeus-Merzbacher disease type II" OR "Severe PMD"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pelizaeus-Merzbacher disease, connatal form" OR "Connatal PMD" OR "Pelizaeus-Merzbacher disease type II" OR "Severe PMD"
Study-type breakdown: 0 interventional · 0 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
Ingested 2026-07-27T11:50:59.537Z