Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 2 - 18 |
| Updated: | 12/13/2018 |
| Start Date: | March 2010 |
| End Date: | April 2025 |
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.
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.
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.
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.
Inclusion Criteria.
1. Definitive diagnosis of LINCL, based on clinical phenotype and genotype.
2. The subject must be between the age of 2 and 18 years.
3. The subject will not previously have participated in a gene transfer or stem cell
study.
4. Parents of study participants must agree to comply in good faith with the conditions
of the study, including attending all of the required baseline and follow-up
assessments, and both parents or legal guardians must give consent for their child's
participation.
Exclusion criteria.
1. Presence of other significant medical or neurological conditions may disqualify the
subject from participation in this study e.g.,malignancy, congenital heart disease,
liver or renal failure.
2. Subjects without adequate control of seizures.
3. Subjects with heart disease that would be a risk for anesthesia or a history of major
risk factors for hemorrhage.
4. Subjects who cannot participate in MRI studies.
5. Concurrent participation in any other FDA approved Investigational New Drug.
6. Subjects with history of prolonged bleeding or abnormal platelet function or taking
aspirin.
We found this trial at
1
site
Click here to add this to my saved trials
