Genotype - Phenotype Correlations of LINCL
Late Infantile Neuronal Lipofuscinosis
|Study Design:||Time Perspective: Prospective|
|Official Title:||Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis|
- Correlation analysis between genotype (genetic constitution) and baseline [ Time Frame: 18 months ] [ Designated as safety issue: No ]
- Correlation analysis between genotype and rate of CNS decline [ Time Frame: 18 months ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||March 2004|
|Study Completion Date:||September 2009|
|Primary Completion Date:||September 2009 (Final data collection date for primary outcome measure)|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00151268
|Principal Investigator:||Ronald G. Crystal, MD||Weill Medical College of Cornell University|