Genotype - Phenotype Correlations of LINCL
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|ClinicalTrials.gov Identifier: NCT00151268|
Recruitment Status : Completed
First Posted : September 8, 2005
Last Update Posted : July 29, 2016
|Condition or disease|
|Batten Disease Late-Infantile Neuronal Ceroid Lipfuscinosis|
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.
|Study Type :||Observational|
|Actual Enrollment :||18 participants|
|Official Title:||Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis|
|Study Start Date :||March 2004|
|Primary Completion Date :||September 2009|
|Study Completion Date :||September 2009|
- Correlation analysis between genotype (genetic constitution) and baseline [ Time Frame: 18 months ]
- Correlation analysis between genotype and rate of CNS decline [ Time Frame: 18 months ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00151268
|Principal Investigator:||Ronald G. Crystal, MD||Weill Medical College of Cornell University|