ORPHA:206436
Infantile Krabbe disease
Also known as: Krabbe disease, classic form · Krabbe disease, early-onset
Publications
215
70.4th percentile
Trials
2
Interventional, condition-specific
Researchers
977
Distinct authors in sample
Gene link
—
Readiness
2/6
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:0016089
- UMLS:C0751273
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
215 matched papers (127 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
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=5449) is 41.
215 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).
127 in the last 10 years · high confidence · 70.4th percentile (publications denominator)
Phrase hits: 215 · MeSH hits: 0
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.
- 01Escolar 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 - 02Gelb MH12 papers · 2021
Department of Chemistry, Biochemistry, and gelb@chem.washington.edu.
Papers in Europe PMC - 03Wenger DA12 papers · 2021
Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA.
Papers in Europe PMC - 04Kurtzberg J11 papers · 2026
Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Papers in Europe PMC - 05Orsini 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 - 06Matern D10 papers · 2026
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Papers in Europe PMC - 07Poe 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 - 08Bongarzone ER7 papers · 2021
Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, IL 60612, USA.
Papers in Europe PMC - 09Luzi P6 papers · 2021
Departments of Medicine and Biochemstry and Molecular Biology, Thomas Jefferson University, Phildelphia, Pennsylvania, USA.
Papers in Europe PMC - 10Rafi 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 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th 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.
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 2026-07-26This 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.
"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"
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