Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid

Status Completed

Clinical Trial Summary

The primary aim of the study is to assess the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, rare, recessive disorder of the CNS in children. This study will be accomplished by comparing the genotype to a neurologic assessment and Weill Cornell LINCL scale, the UBDRS scale, the standardized CHQ quality of life scale, and the Mullen scale; magnetic resonance imaging (MRI); and routine clinical evaluations. This study is designed to run parallel to a separate study which is being done by the Department of Genetic Medicine, which will use gene transfer to treat the central nervous system (CNS) manifestations of late infantile neuronal ceroid lipofuscinosis.

Clinical Trial Description

This protocol is designed to study the natural disease process of LINCL. We propose to assess the correlation between genotype (genetic constitution) and phenotype (observable characteristics) of late infantile neuronal ceroid lipofuscinosis (LINCL) in children diagnosed with LINCL in all stages. LINCL is a form of Batten disease that affects the brain of children and prevents it from functioning properly. These children are born with genetic changes called mutations that result in the inability of the brain to properly recycle proteins in the brain. The recycling failure leads to death of the nerve cells in the brain and progressive loss of brain function. Children with Batten disease are normal at birth but by age 2 to 4 have motor and vision problems which progress rapidly to death at age approximately 10 years old. There are no therapies available to treat the disease. This study is designed to run parallel to the gene transfer protocol, which will include 16 individuals in two groups: Group A will receive 9.0x10^11 genome copies (gc) of the vector and Group B will receive 2.85x10^11 gc; we anticipate that we will be able to capture a one-time genotype - phenotype snapshot for all n=32, and an 18 months genotype - phenotype progression assessment for n=16. ;

Study Design

Related Conditions & MeSH terms

Batten Disease
Late Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid-Lipofuscinoses

Clinical Trial Details

NCT number	NCT01035424
Study type	Observational
Source	Weill Medical College of Cornell University
Contact
Status	Completed
Phase
Start date	June 2009
Completion date	January 2016

View Details

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
Completed	`NCT00151268` - Genotype - Phenotype Correlations of LINCL	N/A
Recruiting	`NCT02435940` - Inherited Retinal Degenerative Disease Registry
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

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms