Late infantile ceroid lipofuscinosis (LINCL) is a rare, rapidly progressing lysosomal storage disease. The rareness of the patients as well as the possibility of non-uniform progression depending on genotype mean that limited data is available that delineates the natural history of disease progression. The primary focus of this study is to use clinical rating scales and magnetic resonance imaging methods to define the natural history of LINCL and to provide objective and sensitive surrogates for neurological status and for the assessment of the impact of experimental treatments in children with LINCL. To achieve this goal we have 3 aims: (1) Recruit children with LINCL and perform serial neurological assessments and MRI studies;(2) Using this data, expand the spectrum of existing quantitative MRI parameters and derive normal ranges and correlate with neurological status and specific mutations;and (3) Extract additional parameters from MRI data including volumes of brain substructures, local metabolite levels by magnetic resonance spectroscopy and local diffusion weighted imaging. Together, these parameters will be applicable to future clinical studies of novel therapies for LINCL, and should be transferable to other neurological lysosomal storage diseases.
Late infantile ceroid lipofuscinosis (LINCL) a rare, rapidly progressing lysosomal disease, will be characterized with neurological rating scales, quality of life questionnaires and magnetic resonance imaging methods. This data will be gathered for the assessment of future treatments.
|Schneider, Joseph; Burmeister, Lynn A; Rudser, Kyle et al. (2016) Hypothyroidism in late-onset Pompe disease. Mol Genet Metab Rep 8:24-7|
|Polgreen, Lynda E; Vehe, Richard K; Rudser, Kyle et al. (2016) Elevated TNF-Î± is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI. Mol Genet Metab 117:427-30|
|Shapiro, Elsa G; Rudser, Kyle; Ahmed, Alia et al. (2016) A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Mol Genet Metab Rep 7:32-9|
|Dyke, J P; Sondhi, D; Voss, H U et al. (2016) Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease). AJNR Am J Neuroradiol 37:1160-9|
|Najafian, Behzad; TÃ¸ndel, Camilla; Svarstad, Einar et al. (2016) One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. PLoS One 11:e0152812|
|Shapiro, E; King, K; Ahmed, A et al. (2016) The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study. Mol Genet Metab Rep 6:41-47|
|Rappaport, Jeff; Manthe, Rachel L; Solomon, Melani et al. (2016) A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders. Mol Pharm 13:357-68|
|Ahmed, Alia; Shapiro, Elsa; Rudser, Kyle et al. (2016) Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI. Mol Genet Metab Rep 7:27-31|
|Karimian, Zahra; Whitley, Chester B; Rudser, Kyle D et al. (2016) Delayed Infusion Reactions to Enzyme Replacement Therapies. JIMD Rep :|
|Kazi, Zoheb B; Prater, Sean N; Kobori, Joyce A et al. (2016) Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. JCI Insight 1:|
Showing the most recent 10 out of 84 publications