Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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. ;


Study Design

Time Perspective: Prospective


Related Conditions & MeSH terms


NCT number NCT00151268
Study type Observational
Source Weill Medical College of Cornell University
Contact
Status Completed
Phase N/A
Start date March 2004
Completion date September 2009

See also
  Status Clinical Trial Phase
Recruiting NCT02254863 - UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Phase 1
Completed NCT01907087 - A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Phase 1/Phase 2
Recruiting NCT03307304 - Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Active, not recruiting NCT03770572 - Gene Therapy for Children With CLN3 Batten Disease Phase 1/Phase 2
Recruiting NCT06203106 - NYSCF Scientific Discovery Biobank
Recruiting NCT02435940 - Inherited Retinal Degenerative Disease Registry
Completed NCT01035424 - Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Completed NCT00151216 - Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Phase 1
Active, not recruiting NCT04273243 - Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer
Recruiting NCT03285425 - Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
Completed NCT00176904 - Stem Cell Transplant for Inborn Errors of Metabolism Phase 2/Phase 3
Recruiting NCT03333200 - Longitudinal Study of Neurodegenerative Disorders
Completed NCT02678689 - A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Phase 2
Completed NCT02485899 - An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Phase 1/Phase 2
Active, not recruiting NCT05174039 - An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of CLN3 Disease Phase 1/Phase 2
Terminated NCT01698229 - Collection of Cerebrospinal Fluid in Healthy Children N/A
Enrolling by invitation NCT03862274 - Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
Recruiting NCT01873924 - Clinical and Neuropsychological Investigations in Batten Disease
Completed NCT01161576 - Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Phase 1
Recruiting NCT04613089 - Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database