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Genotype - Phenotype Correlations of LINCL

NCT00151268 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 18

Last updated 2016-07-29

No results posted yet for this study

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.

Conditions

  • Batten Disease
  • Late-Infantile Neuronal Ceroid Lipfuscinosis

Sponsors & Collaborators

  • Nathan's Battle Foundation

    collaborator OTHER

  • Weill Medical College of Cornell University

    lead OTHER

Principal Investigators

  • Ronald G. Crystal, MD · Weill Medical College of Cornell University

Eligibility

Min Age
2 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2004-03-31
Primary Completion
2009-09-30
Completion
2009-09-30

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00151268 on ClinicalTrials.gov