RecruitingPhase 1NCT02254863
Metabolic
Krabbe Disease
Also known as Globoid cell leukodystrophy, galactosylceramide lipidosis, GALC deficiency
Krabbe disease is a rapidly progressive and often fatal lysosomal storage disorder caused by mutations in the GALC gene encoding galactocerebrosidase. Deficiency of this enzyme leads to accumulation of psychosine, a toxic lipid that destroy
ORPHA:487 ↗Gene GALCPrevalence 1-9 per 100,000 (Orphanet)Onset Infantile, Juvenile, AdultAutosomal recessive genetic
7
studies recruiting now
as of 7 Sept 2026
37
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
27 Aug 2020
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT02993796
Krabbe Disease Global Patient Registry
RecruitingNCT03333200
Longitudinal Study of Neurodegenerative Disorders
RecruitingNCT04528355
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
RecruitingPhase 2NCT01962415
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 7 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Krabbe Disease
Krabbe disease is a rapidly progressive and often fatal lysosomal storage disorder caused by mutations in the GALC gene encoding galactocerebrosidase. Deficiency of this enzyme leads to accumulation of psychosine, a toxic lipid that destroys the myelin sheath protecting nerve cells. The early infantile form is most common and most severe, presenting before 6 months of age with irritability, feeding difficulties, and rapid neurological decline.
Common clinical features
IrritabilityHypertoniaPeripheral neuropathyOptic atrophySeizuresDevelopmental regressionHyperthermia
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2/3Busulfan (Busilvex)
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Before you apply
Things trial teams commonly ask about for Krabbe Disease. Not eligibility rules; those are set by each study.
- Hematopoietic stem cell transplantation (HSCT) eligibility is age and symptom-severity dependent — pre-symptomatic newborns have the best outcomes
- Newborn screening status is often required documentation for early infantile trial enrollment
- GALC enzyme activity below a threshold percentage of normal is a standard inclusion criterion
- Gene therapy trials typically exclude patients who have already received HSCT
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).