Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
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.
Late Infantile Neuronal Lipofuscinosis
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis|
- Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children with Late Infantile Neuronal Ceroid Lipofuscinosis [ Time Frame: The patient will be monitored in intervals within 18 months after the gene has been injected. ] [ Designated as safety issue: Yes ]The purpose of this Phase I study is to test the safety of AAVrh.10CUhCLN2 and see what effects (good and bad) it has as it relates to your child's condition and if it is a safe and effective treatment for Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL).
Biospecimen Retention: Samples With DNA
whole blood, serum
|Study Start Date:||March 2010|
|Estimated Study Completion Date:||April 2017|
|Estimated Primary Completion Date:||April 2015 (Final data collection date for primary outcome measure)|
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.
|Contact: Charleen Hollmann, PhD, MPA, RNfirstname.lastname@example.org|
|Contact: Denesy Mancenido, BAemail@example.com|
|United States, New York|
|Weill Cornell Medical College- New York Presbyterian Hospital||Recruiting|
|New York, New York, United States, 10065|
|Principal Investigator:||Ronald G. Crystal, MD||Weill Medical College of Cornell University|
|Principal Investigator:||Douglas Ballon, PhD||Weill Medical College of Cornell University|