Ignite Creation Date:
2025-12-24 @ 5:25 PM
Ignite Modification Date:
2025-12-30 @ 12:27 AM
Study NCT ID:
NCT00151268
Status:
COMPLETED
Last Update Posted:
2016-07-29
First Post:
2005-09-06
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genotype - Phenotype Correlations of LINCL
Sponsor:
Weill Medical College of Cornell University
Organization:
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 (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.
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.
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 Oversight
Has Oversight DMC:
True
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?: