Batten Disease Clinical Trial
Official title:
Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis
Verified date | July 2020 |
Source | Weill Medical College of Cornell University |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
The aim of this study is to treat the signs and symptoms of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal inherited disease in the brain. This will be accomplished by using delivery of a gene (method called gene transfer) to administer to the brain an experimental drug called AAV2CUhCLN2, a gene transfer vector.
Status | Completed |
Enrollment | 10 |
Est. completion date | June 2019 |
Est. primary completion date | June 2019 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 3 Years to 18 Years |
Eligibility |
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. |
Country | Name | City | State |
---|---|---|---|
United States | New York Presbyterian Hospital - Weill Medical College of Cornell University | New York | New York |
Lead Sponsor | Collaborator |
---|---|
Weill Medical College of Cornell University | Nathan's Battle Foundation |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Neurological assessment using the LINCL clinical rating scale | The neurological examination will be carried out using a standard format with input from the parents/legal guardians as relevant. The clinical rating scale, referred to as a "CNS disability scale" is made up of individual sum of 4 point scales for each of 3 activities; the ratings for each activity are summed, giving a "CNS disability score". Each of the activities are rated 0 to 3, where 0 is the most severe form of the disease. This scale, developed by Steinfeld et al, originally included the four major functional problems in LINCL (loss of motor performance, seizure activity, loss of vision, and loss of language). In this modified clinical rating system, these are now 3 categories. | screening; pre-therapy; and 6 and 18 months post-vector administration | |
Secondary | MRI/MRS assessment | The secondary endpoint variable will be the MRI/MRS assessment of the CNS in regions of vector administration. Anatomical measurements of brain parenchymal volume will be combined with proton spectroscopic imaging of the n-acetyl-aspartate (NAA) resonance, a neuronal marker measurable using clinical magnetic resonance techniques. | screening; pre-therapy; and 6 and 18 months post-vector administration |
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