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ORPHA:206436

Infantile Krabbe disease

high confidenceSubtype of disorder

Also known as: Krabbe disease, classic form · Krabbe disease, early-onset

Publications

215

60.4th percentile

Trials

2

Interventional, condition-specific

Researchers

977

Distinct authors in sample

Gene link

—

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 (5)

early onset Krabbe disease · early symptomatic Krabbe disease · early-onset Krabbe disease · infantile onset Krabbe disease · infantile-onset Krabbe disease

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    215 matched papers (127 in last 10 years) Source

  3. Phenotype characterisedPresent

    71 HPO annotations (e.g. Irritability; Unexplained fevers; Sensorimotor neuropathy) 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 trialPresent

    2 matched on ClinicalTrials.gov

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)

71

Associated phenotypes · MONDO:0016089

  • Irritability
  • Unexplained fevers
  • Sensorimotor neuropathy
  • Inappropriate crying
  • Psychomotor deterioration

Showing 5 of 71 — 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?

215

215 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.

215 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).

127 in the last 10 years · high confidence · 60.4th percentile (publications denominator)

Phrase hits: 215 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

977

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
    Escolar ML20 papers · 2024

    Program for the Study of Neurodevelopment in Rare Disorders, Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA. Maria.Escolar@chp.edu.

    Papers in Europe PMC
  2. 02
    Gelb MH12 papers · 2021

    Department of Chemistry, Biochemistry, and gelb@chem.washington.edu.

    Papers in Europe PMC
  3. 03
    Wenger DA12 papers · 2021

    Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA.

    Papers in Europe PMC
  4. 04
    Kurtzberg J11 papers · 2026

    Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.

    Papers in Europe PMC
  5. 05
    Orsini JJ11 papers · 2026

    New York State Department of Health, Wadsworth Center, Albany, NY 12201-0509, United States. jjo01@health.state.ny.us

    Papers in Europe PMC
  6. 06
    Matern D10 papers · 2026

    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  7. 07
    Poe MD10 papers · 2024

    Program for the Study of Neurodevelopment in Rare Disorders, Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.

    Papers in Europe PMC
  8. 08
    Bongarzone ER7 papers · 2021

    Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, IL 60612, USA.

    Papers in Europe PMC
  9. 09
    Luzi P6 papers · 2021

    Departments of Medicine and Biochemstry and Molecular Biology, Thomas Jefferson University, Phildelphia, Pennsylvania, USA.

    Papers in Europe PMC
  10. 10
    Rafi MA6 papers · 2021

    Department of Medicine (Medical Genetics), Jefferson Medical College, Philadelphia, PA 19107, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 4 trials are registered for Krabbe disease, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: Krabbe disease

4

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

Worth raising with a clinician. 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 24 · after dedupe 24 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 24 · 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 (24)

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 Infantile Krabbe disease — 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.

"Infantile Krabbe disease" OR "Krabbe disease, classic form" OR "Krabbe disease, early-onset" OR "early onset Krabbe disease" OR "early symptomatic Krabbe disease" OR "early-onset Krabbe disease" OR "infantile onset Krabbe disease" OR "infantile-onset Krabbe disease"

Run this search on Europe PMC

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

"Infantile Krabbe disease" OR "Krabbe disease, classic form" OR "Krabbe disease, early-onset" OR "early onset Krabbe disease" OR "early symptomatic Krabbe disease" OR "early-onset Krabbe disease" OR "infantile onset Krabbe disease" OR "infantile-onset Krabbe disease"

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

Parent-category trials query:

"Krabbe disease"

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 2026-07-27T09:16:41.837Z