Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis

Completed · Phase 1

Conditions studied: Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis

In brief

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.

Key facts

Study ID

NCT00151216

Run by

Weill Medical College of Cornell University

People needed

10

Starts

2004-06-01

Expected to finish

2019-06-01

Last updated by the study team

2020-07-24

Who can join

Age: 3 and older, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• New York Presbyterian Hospital - Weill Medical College of Cornell University — New York, New York, United States

Full record on ClinicalTrials.gov

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