ReviewGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 52 citations in OpenAlex.
- Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.Neurology. Genetics · 2026Review
- Brachial plexopathy in juvenile-onset Krabbe disease: A rare case.Skeletal radiology · 2026Article
- Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.Journal of neurology · 2026Article
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Neuroimmunology in globoid cell leukodystrophy: A comprehensive review including treatments, models, and neuroimmune mechanisms underlying neuropathology.Journal of neuroimmunology · 2025Review
- High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.European journal of neurology · 2025Article
- Article
- Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.Molecular genetics & genomic medicine · 2025Review
- Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.PloS one · 2025Article
- Experiences of Patients and Families Living with Krabbe Disease.Journal of patient experience · 2025Article
- Identifying global trends from case reports of fibrodysplasia ossificans progressiva: a scoping review.Therapeutic advances in musculoskeletal disease · 2025Article
- Ablation of lipocalin-2 reduces neuroinflammation in a mouse model of Krabbe disease.Scientific reports · 2024Article
- Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders.Molecular therapy. Methods & clinical development · 2024Review
- Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.Orphanet journal of rare diseases · 2024Article
- Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies.Journal of clinical laboratory analysis · 2023Article
- A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.Human molecular genetics · 2023Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeKrabbe disease (OMIM 245200) is an orphan neurometabolic disorder caused by a deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Hard clinical endpoints and biomarker-phenotype correlations are useful for future clinical trials.
methodsWe performed a quantitative analysis of published cases (N = 248) with Krabbe disease, stratified by age at disease onset: early infantile (age 0-6 months), late infantile (age 7-36 months), juvenile/adolescent (age 37-180 months), and adult onset (>180 months). Main outcome measures were age of disease onset and survival. Cerebrospinal fluid (CSF) protein concentrations were explored as a potential predictor of survival. STROBE criteria were respected.
resultsMedian age of onset was 4 months (early infantile), 14 months (late infantile), 48 months (juvenile), and 384 months (adult). Age of disease onset and therefore disease subtype determined survival rates. CSF protein concentrations predicted age at onset and survival rates in Krabbe disease. Patients with a CSF protein content ≤61.5 mg/dl survived significantly longer than patients with CSF protein values above this threshold.
conclusionWe define the estimated survival in published Krabbe disease cases and demonstrate an association of CSF protein concentration with disease severity. These data inform patient care and clinical trials.
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