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

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT00151216
• Date of registration: 06/09/2005
• Prospective Registration: No
• Primary sponsor: Weill Medical College of Cornell University
• Public title: Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
• Scientific 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
• Date of first enrolment: June 2004
• Target sample size: 10
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT00151216
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Parallel Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1

Countries of recruitment

United States

Contacts

• Name: Ronald G. Crystal, MD
• Affiliation: Weill Medical College of Cornell University

Key inclusion & exclusion 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.



Age minimum: 3 Years
Age maximum: 18 Years
Gender: All

Health Condition(s) or Problem(s) studied

Batten Disease

Late Infantile Neuronal Ceroid Lipofuscinosis

Intervention(s)

Biological: AAV2CUhCLN2 (3x10^12 particle units)

Primary Outcome(s)

Neurological assessment using the LINCL clinical rating scale [Time Frame: screening; pre-therapy; and 6 and 18 months post-vector administration]

Secondary Outcome(s)

MRI/MRS assessment [Time Frame: screening; pre-therapy; and 6 and 18 months post-vector administration]

Secondary ID(s)

0401007010

OBA-RAC 0312-619

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Nathan's Battle Foundation