Clinical Trial: Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal The investigators propose to assess a new drug to treat children with a form of Batten Disease called Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL). These children are born with genetic changes called mutations in their CLN2 gene that result in the inability of the brain to properly recycle proteins. The recycling failure leads to death of the nerve cells in the brain and progressive loss of brain function. Children with Batten disease are normal at birth but by age 2 to 4 have motor and vision problems which progress rapidly to death at age approximately 10 years old. There are no therapies available to treat the disease.
The experimental gene transfer procedure treatment the investigators propose consists of augmenting the abnormal gene by a good copy. A virus is used to deliver the good gene to the nerve cells. Since the disease is due to an abnormal CLN2 gene, the aim of this study is to add a normal copy of the CLN2 gene to the brain of affected children to try to reverse death of cells in the brain. Previously the investigators have used a virus called adeno-associated virus 2 (AAV2) as the gene delivery system. That study showed that viral delivery of the gene was safe. We now propose to use a slightly different virus called AAVrh.10 as a gene delivery system and use 2 different doses of the virus. Children with Batten disease will get the drug injected into the brain and will receive extensive neurological assessment at intervals to determine if the transfer slows the rate of progress of the disease.
The primary aims of the study are: (1) to assess the hypothesis that direct administration of AAVrh.10CUhCLN2 to the brain of children with LINCL can be achieved safely and with minimal toxicity; and (2) to evaluate the hypothesis that direct administration of AAVrh.10CUhCLN2 to the brain of children with LINCL
Sponsor: Weill Medical College of Cornell University
Current Primary Outcome: Weill-Cornell LINCL scale and MRI Parameters [ Time Frame: 18 months ]
Original Primary Outcome:
- Rating on the Weill-Cornell scale [ Time Frame: 18 months ]
- MRI Parameters [ Time Frame: 18 months ]
Current Secondary Outcome:
- CHQ/ITQoL questionnaire [ Time Frame: 18 months ]Quality of Life questionnaire to be filled out by parents.
- Mullen Scale (developmental assessment) [ Time Frame: 18 months ]
Original Secondary Outcome: Same as current
Information By: Weill Medical College of Cornell University
Dates:
Date Received: March 22, 2010
Date Started: August 2010
Date Completion: August 2032
Last Updated: May 8, 2017
Last Verified: May 2017
