This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.The investigators propose to carry out a study using gene transfer to treat the central nervous system (CNS) manifestations of late infantile neuronal ceroid lipofuscinoses (LINCL), a fatal, recessive disorder of the (CNS) in children.
The aim of this protocol is to study the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinoses by: comparing the genotype to a neurologic assessment and LINCL clinical rating scale; magnetic resonance imaging (MRI) and magnetic resonance spectroscopic (MRS) assessments of the CNS; and routine clinical evaluations.The study will be carried out in children diagnosed with LINCL in all stages. The staging is based on a modification of the scale of Steinfeld et al. The study anticipates a total of 30 children assessed over a period of 18 months. Of these, the investigators anticipate that approximately two-thirds will not be entered into the proposed gene transfer protocol and thus approximately 20 will be available for this study to be reassessed at 1 year. The investigators anticipate that they will be able to capture a one-time genotype - phenotype snapshot for all 30, and a 1 year genotype - phenotype progression assessment for 20.
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