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ORPHA:280288

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

low confidenceSubtype of disorder

Also known as: Mitochondrial HSP60 chaperonopathy

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

Publications

10,689

Trials

0

Interventional, condition-specific

Researchers

212

Distinct authors in sample

Gene link

HSPD1

Strong

Readiness

3/6

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 (7)

HLD4 · HSPD1 leukodystrophy · MitCHAP60 disease · hypomyelinating leukodystrophy type 4 · leukodystrophy caused by mutation in HSPD1 · leukodystrophy, hypomyelinating, type 4 · mitochondrial HSP60 chaperonopathy

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.

  1. Gene identifiedPresent

    Strong — HSPD1

  2. LiteraturePresent

    10,689 matched papers (5,852 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Seizure; Profound intellectual disability; Strabismus) 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 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 (HSPD1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0012824

  • Seizure
  • Profound intellectual disability
  • Strabismus
  • Choreoathetosis
  • Flexion contracture

Showing 5 of 20 — 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?

10,689

10,689 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,689 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).

5,852 in the last 10 years · low confidence

Phrase hits: 29 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

212

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
    Bross P7 papers · 2024

    Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark. Electronic address: peter.bross@clin.au.dk.

    Papers in Europe PMC
  2. 02
    Palmfeldt J4 papers · 2024

    Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

    Papers in Europe PMC
  3. 03
    Fernandez-Guerra P3 papers · 2024

    Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark; Molecular Endocrinology Unit, KMEB, Department of Endocrinology, Odense University Hospital, Odense, Denmark. Electronic address: pfernandez@health.sdu.dk.

    Papers in Europe PMC
  4. 04
    Ang D2 papers · 2020

    Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, Utah 84112-5650, USA.

    Papers in Europe PMC
  5. 05
    Cömert C2 papers · 2024

    Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark. Electronic address: cagla.comert@clin.au.dk.

    Papers in Europe PMC
  6. 06
    Conway de Macario E2 papers · 2019

    Department of Microbiology and Immunology, School of Medicine, University of Maryland at Baltimore, Columbus Center; Institute of Marine and Environmental TechnologyBaltimore, MD, USA; Euro-Mediterranean Institute of Science and TechnologyPalermo, Italy.

    Papers in Europe PMC
  7. 07
    Corydon TJ2 papers · 2013
    Papers in Europe PMC
  8. 08
    Georgopoulos C2 papers · 2020

    Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, Utah 84112-5650, USA.

    Papers in Europe PMC
  9. 09
    Hansen J2 papers · 2024

    Department of Forensic Medicine, Aarhus University, Aarhus, Denmark.

    Papers in Europe PMC
  10. 10
    Houlden H2 papers · 2024

    Department of Molecular Neuroscience, UCL Institute of Neurology , London, 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.

low 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 HSPD1 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 HSPD1 mutation" OR "Mitochondrial HSP60 chaperonopathy" OR "HSPD1 leukodystrophy" OR "MitCHAP60 disease" OR "hypomyelinating leukodystrophy type 4" OR "leukodystrophy caused by mutation in HSPD1" OR "leukodystrophy, hypomyelinating, type 4") OR (MESH:"Leukodystrophy, Hypomyelinating, 4") OR ("HSPD1" OR "HSPD1 syndrome" OR "HSPD1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukodystrophy, Hypomyelinating, 4

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

"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" OR "Mitochondrial HSP60 chaperonopathy" OR "HSPD1 leukodystrophy" OR "MitCHAP60 disease" OR "hypomyelinating leukodystrophy type 4" OR "leukodystrophy caused by mutation in HSPD1" OR "leukodystrophy, hypomyelinating, type 4" OR "Leukodystrophy, Hypomyelinating, 4"

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: HLD4

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
  • Publication count (10689) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T11:52:08.666Z