Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
The documentation for infantile Krabbe disease is limited primarily due to its extreme rarity, which affects fewer than 1 in 100,000 births. This rarity results in a lack of systematic clinical studies and comprehensive data collection. Additionally, the genetic basis of the disease has not been clearly defined, complicating efforts to characterize its clinical features. As research progresses, there is hope for improved understanding and management of this condition.
To navigate the complexities of infantile Krabbe disease, it is crucial to seek specialists such as pediatric neurologists with expertise in metabolic and neurodegenerative disorders. While there are no specific patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, consider participating in clinical trials to contribute to research and potentially access new therapies. Genetic counseling may also be beneficial to understand any risks for family members.
Currently, there are several orphan drugs designated for infantile Krabbe disease, including adeno-associated virus serotype rhesus 10 vector expressing the human GALC gene, Gemfibrozil, ibudilast, recombinant serotype 9 adeno-associated virus encoding a human GALC transgene, and Trans-Cinnamic Acid. Additionally, there are 2 active clinical trials aimed at exploring potential treatments. For more information on these trials, you can visit ClinicalTrials.gov and search for 'infantile Krabbe disease'.
Actionable guidance for navigating care for infantile Krabbe disease
To navigate the complexities of infantile Krabbe disease, it is crucial to seek specialists such as pediatric neurologists with expertise in metabolic and neurodegenerative disorders. While there are no specific patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, consider participating in clinical trials to contribute to research and potentially access new therapies. Genetic counseling may also be beneficial to understand any risks for family members.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.