SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2018
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- 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
- Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.PloS one · 2025Article
- Identifying global trends from case reports of fibrodysplasia ossificans progressiva: a scoping review.Therapeutic advances in musculoskeletal disease · 2025Article
- Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.Orphanet journal of rare diseases · 2024Article
- Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.Italian journal of pediatrics · 2023Article
- rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis.Gene therapy · 2023Article
- Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.Orphanet journal of rare diseases · 2022Article
- Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature.Case reports in genetics · 2022Article
- Free sialic acid storage disorder: Progress and promise.Neuroscience letters · 2021Review
- Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease.BMJ case reports · 2021Article
- Disease awareness or subtle product placement? Orphan diseases featured in the television series "House, M.D." - a cross-sectional analysis.BMC medical ethics · 2020Article
- FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.PloS one · 2020Article
- Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency.Laboratory investigation; a journal of technical methods and pathology · 2019Article
- Early prediction of phenotypic severity in Citrullinemia Type 1.Annals of clinical and translational neurology · 2019Article
- The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.International journal of molecular sciences · 2019Review
- Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.The American journal of pathology · 2019Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeFarber disease (OMIM 22800) is an ultrarare progressive multisystemic neurodevelopmental storage disorder caused by a deficiency of the lysosomal enzyme acid ceramidase (AC). Hard clinical end points for future clinical trials remain to be defined.MethodsWe quantitatively analyzed published cases with Farber disease (N = 96). The main outcome variables were survival and diagnostic delay. As a potential predictor of survival, the influence of residual AC enzyme activity was investigated. The analysis was performed in compliance with STROBE criteria.ResultsThe median survival period of the study population was 3 years. The median age at disease onset was 3 months, and the median age at diagnosis was 17 months. The median diagnostic delay was 13.75 months. Patients with residual AC activity in fibroblasts at more than 5.1% of the normal level survived significantly longer than patients with residual AC activity below this threshold. In addition, higher residual AC activity was associated with a later onset of symptoms.ConclusionFarber disease onset is in infancy. Diagnostic delay is typically substantial. Our data suggest a phenotype-biomarker association with implications for future clinical and therapeutic trials. In the absence of a prospective multicenter natural-history study protocol, we believe that our modeling approach, based on published case descriptions, is the best and most timely approximation for generalizability.
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