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

Plain-language summary

This study examines the safety of a gene therapy called AAV2CUhCLN2, which aims to deliver the CLN2 gene to cells, in children with late infantile neuronal ceroid lipofuscinosis (LINCL). It enrolled children with a definitive diagnosis confirmed by CLN2 gene mutations who had not previously received gene therapy for this disease. The research was conducted in Phase 1 and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 1

Status

Completed

Sponsor

Weill Medical College of Cornell University

Intervention

AAV2CUhCLN2 (3x10^12 particle units)

Start date

6/1/2004

Estimated completion

6/1/2019

Countries

United States

Related genes

Locations

• New York, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine 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.