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ORPHA:487

Krabbe disease

medium confidenceDisorder

Also known as: GALC deficiency · Galactocerebrosidase deficiency · Galactosylceramidase deficiency · Globoid cell leukodystrophy

Publications

34,006

97.1th percentile

Trials

9

Interventional, condition-specific

Researchers

1,139

Distinct authors in sample

Gene link

GALC

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GALC

  2. LiteraturePresent

    34,006 matched papers (10,712 in last 10 years) Source

  3. Phenotype characterisedPresent

    241 HPO annotations (e.g. Irritability; Unexplained fevers; Sensorimotor neuropathy) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 2 EMA designations (2 FDA orphan-indication approvals) — e.g. Trans-Cinnamic Acid Source

  6. 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)

241

Associated phenotypes · MONDO:0009499

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

Showing 5 of 241 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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)

4

Designations · 2 with FDA orphan-indication approval

  • FDA Trans-Cinnamic AcidKrabbe Disease · 2021-02-03 · Not FDA Approved for Orphan Indication
  • FDA ibudilastKrabbe Disease · 2015-06-01 · Not FDA Approved for Orphan Indication
  • EMA adeno-associated virus serotype hu68 containing the human GALC geneTreatment of Krabbe disease · 26/03/2021 · PositiveEMA designation
  • EMA adeno-associated virus serotype rh10 containing the human GALC geneTreatment of Krabbe disease · 15/10/2021 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0009499

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

34,006

34,006 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.

34,006 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).

10,712 in the last 10 years · medium confidence · 97.1th percentile (publications denominator)

Phrase hits: 3,071 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Bongarzone ER8 papers · 2025

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

    Papers in Europe PMC
  2. 02
    Li Y8 papers · 2026

    Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.

    Papers in Europe PMC
  3. 03
    Presta M8 papers · 2025

    Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. marco.presta@unibs.it.

    Papers in Europe PMC
  4. 04
    Belleri M7 papers · 2025

    Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy.

    Papers in Europe PMC
  5. 05
    Cecchini M7 papers · 2025

    NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Piazza San Silvestro 12, 56127 Pisa, Italy.

    Papers in Europe PMC
  6. 06
    Del Grosso A7 papers · 2025

    NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Piazza San Silvestro 12, 56127 Pisa, Italy.

    Papers in Europe PMC
  7. 07
    Escolar 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
  8. 08
    Zhang 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
  9. 09
    Bradbury AM6 papers · 2024

    Department of Pediatrics, Nationwide Children's Hospital, Ohio State University, Columbus, OH, USA.

    Papers in Europe PMC
  10. 10
    Jiang 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 11 September 2026 · last trial check 28 July 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

medium confidence · 92th 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

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 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.

("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" OR "GALC syndrome" OR "GALC-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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