Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
About this trial
This is an interventional treatment trial for Batten Disease focused on measuring Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis, LINCL
Eligibility Criteria
Inclusion Criteria: A definitive diagnosis of late infantile neuronal ceroid lipofuscinosis, based on clinical phenotype and genotype, with CLN2 gene mutations known to be associated with the disease. All subjects will be naive, i.e., they have not previously participated in a gene therapy study for LINCL. 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. Both parents or legal guardians must give consent for their child's participation in the research study. For group A, subjects will have a LINCL average total disability score 0 to 4, the severe form of the disease. For group B, subjects will have a LINCL average total disability score 5 to 6, a moderate form of the disease. Exclusion criteria Other significant medical or neurological conditions may disqualify the patient from participation in this study, particularly those which would create an unacceptable operative risk or risk to receiving the AAV2CUhCLN2 vector. Examples include malignancy (other than skin cancer), congenital heart disease, liver or renal failure, or seropositive for HIV. Each case will be individually reviewed and the final decision shall rest with the Eligibility Committee comprised on three physicians other than the Principal Investigator, including a pediatric neurosurgeon, pediatric neurologist and general pediatrician. Individuals without adequate control of seizures (i.e., a seizure score <3 on the CNS Disability Scoring System for Late Infantile Neuronal Ceroid Lipofuscinosis). Individuals with heart disease that would be a risk for anesthesia. History of hemorrhage or major risk factors for hemorrhage (e.g., abnormally low platelet counts). Concurrent participation in any other FDA approved Investigational New Drug clinical protocol is not allowed, although the Principal Investigator will work with other doctors to accommodate specific requests (e.g., a study of nutritional supplements probably would not be a disqualification). Individuals who have a (1) heart pacemaker and/or related implants, (2) metal fragment/chip in the eye or other sites, (3) an aneurysm clip in their brain, and (4) metallic inner ear implants.
Sites / Locations
- New York Presbyterian Hospital - Weill Medical College of Cornell University
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
Group A-Severe Stages of LINCL
Group B-Moderate Stages of LINCL
Group A will include n= 5 children with a total disability score of 0 to 4 (the severe forms of the disease; the staging based on a modification of the scale of Steinfeld et al. All subjects will receive 3x10^12 particle units of the AAV2CUhCLN2 vector.
Group B will include n=6 children with a total disability score of 5 to 6, a moderate stage of the disease. All subjects will receive 3x10^12 particle units of the AAV2CUhCLN2 vector.