A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
Orphanet J Rare Dis
; 10: 78, 2015 Jun 17.
Article
em En
| MEDLINE
| ID: mdl-26082315
ABSTRACT
BACKGROUND:
Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births, though recent neonatal screening suggests a higher incidence. New treatment options for LSDs demand a rapid, early diagnosis of LSDs if maximal clinical benefit is to be achieved.METHODS:
Here, we describe a novel, highly specific and sensitive biomarker for Niemann-Pick Type C disease type 1 (NPC1), lyso-sphingomyelin-509. We cross-validate this biomarker with cholestane-3ß,5α,6ß-triol and relative lysosomal volume. The primary cohort for establishment of the biomarker contained 135 NPC1 patients, 66 NPC1 carriers, 241 patients with other LSDs and 46 healthy controls.RESULTS:
With a sensitivity of 100.0% and specificity of 91.0% a cut-off of 1.4 ng/ml was established. Comparison with cholestane-3ß,5α,6ß-triol and relative acidic compartment volume measurements were carried out with a subset of 125 subjects. Both cholestane-3ß,5α,6ß-triol and lyso-Sphingomyelin-509 were sufficient in establishing the diagnosis of NPC1 and correlated with disease severity.CONCLUSION:
In summary, we have established a new biomarker for the diagnosis of NPC1, and further studies will be conducted to assess correlation to disease progress and monitoring treatment.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esfingosina
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Biomarcadores
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Doença de Niemann-Pick Tipo C
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article