Transcriptome of 2-Hydroxypropyl-Beta-Cyclodextrin Treatment in Niemann-Pick Disease Type C1

Niemann-Pick type C (NPC) disease is a rare and fatal lysosomal storage disorder. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia, dysarthria, seizures, vertical gaze palsy, motor impairment, dysphagia, psychotic episodes, and progressive dementia. In general, adolescent and adult onset forms have a more insidious onset and slower progression. As part of a multi-omics approach to address the genetic architecture of NPC1 disease, we have recently completed a transcriptome analysis using 43 primary NPC1 patient-derived fibroblasts from an NIH-cohort study (NCT00344331) where extensive clinical data has been obtained regarding the natural history of the disease. Initial transcriptome analysis of this dataset demonstrated a set of 485 genes that are significantly upregulated in patient samples and subsequently downregulated in response to 2-hydroxypropyl-beta-cyclodextrin treatment. ]]>
INCLUSION CRITERIA:all patients with an established diagnosis of NPC (biochemical or molecular); both NPC1 and NPC2 patients.any agemale or femaleany ethnic backgroundEXCLUSION CRITERIA:cannot travel to the NIH because of their medical conditions or are too ill to be cared for at home.have rapidly progressive neonatal cholestasis.are pregnant (a negative urine pregnancy test will be required for any menstruating female before participation in this study and at each NIH Clinical Center admission).unaffected subjectsIndividuals may be enrolled for biospecimen collection if:They are a known NPC1 or NPC2 heterozygote and consent to specimen collection (as specified in the protocol) from the carrier population.There is no diagnosis or suspicion of NPC disease and they consent to specimen collection (as specified in the protocol) from a control population.Individuals will not be enrolled for biospecimen collection if:Consent is not provided.They have a contraindication to the method of specimen collection. Patients will be excluded from the MRI section of the study if they have a contraindication to MRI or if they do not meet the safety criteria established by the NIH Clinical Center radiology department for MRI scanning.]]>
Recruitment Status : RecruitingFirst Posted : June 26, 2006Last Update Posted : March 5, 2021]]>