ORPHA:487
Krabbe disease
Also known as: GALC deficiency · Galactocerebrosidase deficiency · Galactosylceramidase deficiency · Globoid cell leukodystrophy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,071
94.6th percentile
Trials
9
Interventional, condition-specific
Researchers
1,139
Distinct authors in sample
Gene link
GALC
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (, late-, juvenile, adolescent and adulthood).
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009499
- MeSH:D007965
- OMIM:245200
- UMLS:C0023521
- NCIT:C61254
Additional Mondo synonyms (9)
GALC enzyme deficiency · Krabbe's leukodystrophy · Leukodystrophy, Krabbe's · diffuse globoid body sclerosis · galactocerebrosidase deficiency · galactosylceramidase deficiency · galactosylceramide lipidosis · globoid cell leukodystrophy · globoid cell leukoencephalopathy
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.
- Gene identifiedPresent
Definitive — GALC
- LiteraturePresent
3,071 matched papers (1,534 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
9 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?
Yes — we know a specific gene responsible (GALC).
GenCC classification: Definitive.
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?
3,071
3,071 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=5449) is 41.
3,071 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).
1,534 in the last 10 years · medium confidence · 94.6th percentile (publications denominator)
Phrase hits: 3,071 · MeSH hits: 0
Who's working on it?
1,139
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.
- 01Bongarzone ER8 papers · 2025
Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, IL, USA.
Papers in Europe PMC - 02Li Y8 papers · 2026
Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Papers in Europe PMC - 03Presta M8 papers · 2025
Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. marco.presta@unibs.it.
Papers in Europe PMC - 04Belleri M7 papers · 2025
Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy.
Papers in Europe PMC - 05Cecchini M7 papers · 2025
NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Piazza San Silvestro 12, 56127 Pisa, Italy.
Papers in Europe PMC - 06Del Grosso A7 papers · 2025
NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Piazza San Silvestro 12, 56127 Pisa, Italy.
Papers in Europe PMC - 07Escolar ML7 papers · 2024
Program for the Study of Neurodevelopment in Rare Disorders and Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.
Papers in Europe PMC - 08Zhang Y7 papers · 2025
State Key Laboratory of Medical Molecular Biology, Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China. yezhang@ibms.pumc.edu.cn.
Papers in Europe PMC - 09Bradbury AM6 papers · 2024
Department of Pediatrics, Nationwide Children's Hospital, Ohio State University, Columbus, OH, USA.
Papers in Europe PMC - 10Jiang X6 papers · 2026
Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
9
interventional trials for this specific condition
9 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).
medium confidence · 91.2th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
9 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.
Observational and natural-history studies
12 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT02993796·RECRUITING·Krabbe Disease Global Patient Registry
Conditions: Krabbe Disease·Matched via name phrase
- NCT03333200·RECRUITING·Longitudinal Study of Neurodegenerative Disorders
Conditions: MLD · Krabbe Disease · ALD · MPS I·Matched via name phrase
- NCT03047369·RECRUITING·The Myelin Disorders Biorepository Project
Conditions: Leukodystrophy · White Matter Disease · Leukoencephalopathies · 4H Syndrome·Matched via name phrase
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.
"Krabbe disease" OR "GALC deficiency" OR "Galactocerebrosidase deficiency" OR "Galactosylceramidase deficiency" OR "Globoid cell leukodystrophy" OR "GALC enzyme deficiency" OR "Krabbe's leukodystrophy" OR "Leukodystrophy, Krabbe's" OR "diffuse globoid body sclerosis" OR "galactosylceramide lipidosis" OR "globoid cell leukoencephalopathy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Krabbe disease" OR "GALC deficiency" OR "Galactocerebrosidase deficiency" OR "Galactosylceramidase deficiency" OR "Globoid cell leukodystrophy" OR "GALC enzyme deficiency" OR "Krabbe's leukodystrophy" OR "Leukodystrophy, Krabbe's" OR "diffuse globoid body sclerosis" OR "galactosylceramide lipidosis" OR "globoid cell leukoencephalopathy" OR "GALC"
Recall-expansion terms: GALC
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: 9 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:00:52.595Z