Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
This study is currently recruiting participants.
Verified May 2017 by Weill Medical College of Cornell University
First Posted: December 18, 2009
Last Update Posted: May 24, 2017
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Rare Diseases Clinical Research Network
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health (NIH)
Information provided by (Responsible Party):
Weill Medical College of Cornell University
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 Ceroid Lipofuscinosis
||Observational Model: Case-Only
Time Perspective: Prospective
||Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Primary Outcome Measures:
- Change in Weill-Cornell LINCL scale at 18 months [ Time Frame: Day 0, 18 months ]
The Weill Cornell LINCL scale, a 12 point scale which combines assessment of feeding, gait, motor and language to give an overall assessment of various CNS functions
Biospecimen Retention: Samples With DNA
Secondary Outcome Measures:
- Change in MRI parameters at 18 months [ Time Frame: Day 0, 18 months ]
MRI assessment at various intervals Day 0 and month 18. Based on previous analyses, we have determined that 3 imaging parameters (% grey matter volume, % ventricular volume and cortical apparent diffusion coefficient) correlate best with age and with the Weill Cornell LINCL scale. These 3 imaging parameters will be used to assess disease progression in this screening protocol and the effect of the gene transfer in the IRB approved gene transfer trials (IRB #0810010013 and #1005011054). For those children available to continue in the study, all parameters will be re-assessed by comparing baseline evaluations to month 18 evaluation.
whole blood, serum
| Estimated Enrollment:
| Study Start Date:
| Estimated Study Completion Date:
| Estimated Primary Completion Date:
||April 2020 (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.