Ignite Creation Date:
2024-05-05 @ 11:50 AM
Last Modification Date:
2024-10-26 @ 9:14 AM
Study NCT ID:
NCT00151268
Status:
COMPLETED
Last Update Posted:
2016-07-29
First Post:
2005-09-06
Brief Title:
Genotype - Phenotype Correlations of LINCL
Sponsor:
Weill Medical College of Cornell University
Organization:
Weill Medical College of Cornell University
Study Overview
Official Title:
Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Status:
COMPLETED
Status Verified Date:
2016-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 n11 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
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 n30 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 n20 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 n30 and a 1 year genotype - phenotype progression assessment for n20
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 n30 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 n20 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 n30 and a 1 year genotype - phenotype progression assessment for n20
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None