Batten Disease Clinical Trial
Official title:
Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
In a separate protocol the Department of Genetic Medicine is proposing to carry out a study using gene transfer to treat the central nervous system (CNS) manifestations of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, rare, recessive disorder of the (CNS) in children. In the context that there is little known about the genotype - phenotype correlations of LINCL, and that our referral far exceed the number (n=11) of children that will be entered into the gene transfer protocol, we are proposing to capitalize on this unique opportunity to evaluate this disorder in this separate study. In this context, the aim of this protocol is to study the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinosis. This will be accomplished 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.
This proposed clinical protocol is designed to assess genotype - phenotype correlations of
LINCL, including a preliminary assessment regarding the genotype - phenotype correlations of
progressive CNS deterioration inherent to this disorder. The trial will include the primary
endpoint of neurological assessment including the LINCL clinical rating scale and parental
evaluations; and the secondary endpoint of magnetic resonance imaging (MRI) and magnetic
resonance spectroscopic (MRS) assessments of the CNS.
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 (Steinfeld, 2002). The study
anticipates a total n=30 children assessed over a period of 18 months. Of these, we
anticipate that approximately two-thirds will not be entered into the proposed gene therapy
protocol and thus approximately n=20 will be available for this study to be reassessed at 1
year. Thus, we anticipate that we will be able to capture a one-time genotype - phenotype
snapshot for all n=30, and a 1 year genotype - phenotype progression assessment for n=20.
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Time Perspective: Prospective
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