Clinical Trial: Genotype - Phenotype Correlations of LINCL

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

Brief Summary: 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.

Detailed Summary:

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.

Sponsor: Weill Medical College of Cornell University

Current Primary Outcome: Correlation analysis between genotype (genetic constitution) and baseline [ Time Frame: 18 months ]

Original Primary Outcome:

Current Secondary Outcome: Correlation analysis between genotype and rate of CNS decline [ Time Frame: 18 months ]

Original Secondary Outcome:

Information By: Weill Medical College of Cornell University

Dates:
Date Received: September 6, 2005
Date Started: March 2004
Date Completion:
Last Updated: July 28, 2016
Last Verified: July 2016