ORPHA:280293
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
750
84.2th percentile
Trials
0
Interventional, condition-specific
Researchers
203
Distinct authors in sample
Gene link
AIMP1
Definitive
Readiness
3/6
Stages with a signal
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009843
- MeSH:C536319
- OMIM:260600
- UMLS:C1850053
Additional Mondo synonyms (6)
AIMP1 leukodystrophy · HLD3 · hypomyelinating leukodystrophy 3 · hypomyelinating leukodystrophy type 3 · leukodystrophy caused by mutation in AIMP1 · leukodystrophy, hypomyelinating, type 3
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — AIMP1
- LiteraturePresent
750 matched papers (556 in last 10 years) Source
- Phenotype characterisedPresent
25 HPO annotations (e.g. Projectile vomiting; Slow pupillary light response; Global brain atrophy) 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?
Yes — we know a specific gene responsible (AIMP1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
25
Associated phenotypes · MONDO:0009843
- Projectile vomiting
- Slow pupillary light response
- Global brain atrophy
- Coarse facial features
- Axial hypotonia
Showing 5 of 25 — 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?
750
750 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.
750 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).
556 in the last 10 years · medium confidence · 84.2th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
203
Distinct author names in 21 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.
- 01Bernard G3 papers · 2015
Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
Papers in Europe PMC - 02Vanderver A3 papers · 2015
Department of Neurology, Children's National Health System, Washington, DC, USA.
Papers in Europe PMC - 03Brais B2 papers · 2011Papers in Europe PMC
- 04Fribourg S2 papers · 2011Papers in Europe PMC
- 05Li H2 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 06Li L2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 07Miyamoto Y2 papers · 2022
Laboratory of Molecular Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji 192-0392, Japan.
Papers in Europe PMC - 08Mizoguchi K2 papers · 2022
Tsumura Research Laboratories, Tsumura & Co., Inashiki 200-1192, Japan.
Papers in Europe PMC - 09Ohbuchi K2 papers · 2022
Tsumura Research Laboratories, Tsumura & Co., Inashiki 200-1192, Japan.
Papers in Europe PMC - 10Schiffmann R2 papers · 2011Papers 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 AIMP1 mutation — 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-like disease due to AIMP1 mutation" OR "AIMP1 leukodystrophy" OR "hypomyelinating leukodystrophy 3" OR "hypomyelinating leukodystrophy type 3" OR "leukodystrophy caused by mutation in AIMP1" OR "leukodystrophy, hypomyelinating, type 3") OR (MESH:"Pelizaeus-Merzbacher-like disease, autosomal recessive, 2") OR ("AIMP1" OR "AIMP1 syndrome" OR "AIMP1-related")MeSH descriptor terms unioned into the query: Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" OR "AIMP1 leukodystrophy" OR "hypomyelinating leukodystrophy 3" OR "hypomyelinating leukodystrophy type 3" OR "leukodystrophy caused by mutation in AIMP1" OR "leukodystrophy, hypomyelinating, type 3" OR "Pelizaeus-Merzbacher-like disease, autosomal recessive, 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: HLD3
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 2026-07-27T11:52:22.662Z