Text Size

Genotype - Phenotype Correlations of LINCL

This study has been completed.
Sponsor:
Collaborator:
Nathan's Battle Foundation
Information provided by:
Weill Medical College of Cornell University
ClinicalTrials.gov Identifier:
NCT00151268
First received: September 6, 2005
Last updated: December 18, 2009
Last verified: December 2009
History of Changes
  Purpose

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.


Condition
Batten Disease
Late Infantile Neuronal Lipofuscinosis

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Weill Medical College of Cornell University:

Biospecimen Retention:   Samples With DNA

whole blood, serum


Estimated Enrollment: 30
Study Start Date: March 2004
Study Completion Date: September 2009
Primary Completion Date: September 2009 (Final data collection date for primary outcome measure)
Detailed Description:

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.

  Eligibility

Ages Eligible for Study:   2 Years to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

The study will be carried out in children diagnosed with LINCL in all stages.

Criteria

Inclusion Criteria:

  • A definitive diagnosis of late infantile neuronal ceroid lipofuscinosis
  • Between the age of 2 and 18 years
  • Not previously participated in a gene transfer study for LINCL.
  • Parents of study participants must agree to comply in good faith with the conditions of the study, including attending all of the required baseline and follow-up assessments.
  • Both parents or legal guardians must give consent for their child's participation in the research study.

Exclusion Criteria:

  • Individuals with heart disease that would be a risk for anesthesia.
  • Concurrent participation in any other FDA approved Investigational New Drug clinical protocol is not allowed, although the Principal Investigator will work with other doctors to accommodate specific requests (e.g., a study of nutritional supplements probably would not be a disqualification).
  • Individuals who have a contraindication to MRI/MRS assessment including: (1) heart pacemaker and/or related implants; (2) metal fragment/chip in the eye or other sites; (3) an aneurysm clip in their brain; and (4) metallic inner ear implants.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00151268

Sponsors and Collaborators
Weill Medical College of Cornell University
Nathan's Battle Foundation
Investigators
Principal Investigator: Ronald G. Crystal, MD Weill Medical College of Cornell University
  More Information

No publications provided by Weill Medical College of Cornell University

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Responsible Party: Department of Genetic Medicine, Weill Cornell Medical College
ClinicalTrials.gov Identifier: NCT00151268     History of Changes
Other Study ID Numbers: 0401007011
Study First Received: September 6, 2005
Last Updated: December 18, 2009
Health Authority: United States: Institutional Review Board

Keywords provided by Weill Medical College of Cornell University:
Batten Disease
Late Infantile Neuronal Lipofuscinosis
LINCL

Additional relevant MeSH terms:
Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
 Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases

ClinicalTrials.gov processed this record on May 23, 2013