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Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

NCT01035424 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 48

Last updated 2020-07-29

No results posted yet for this study

Summary

The primary aim of the study is to assess the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, rare, recessive disorder of the CNS in children. This study will be accomplished by comparing the genotype to a neurologic assessment and Weill Cornell LINCL scale, the UBDRS scale, the standardized CHQ quality of life scale, and the Mullen scale; magnetic resonance imaging (MRI); and routine clinical evaluations. This study is designed to run parallel to a separate study which is being done by the Department of Genetic Medicine, which will use gene transfer to treat the central nervous system (CNS) manifestations of late infantile neuronal ceroid lipofuscinosis.

Conditions

  • Batten Disease
  • Late Infantile Neuronal Ceroid Lipofuscinosis

Sponsors & Collaborators

  • Rare Diseases Clinical Research Network

    collaborator NETWORK

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

  • National Institutes of Health (NIH)

    collaborator NIH

  • 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
2009-06-30
Primary Completion
2016-01-31
Completion
2016-01-31

Countries

  • United States

Study Locations

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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 NCT01035424 on ClinicalTrials.gov