Clinical Trials

Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis



The primary objective of this trial is to establish the safety and tolerability of short-term (8 weeks) administration of mycophenolate mofetil in ambulatory children with JNCL. The secondary objective is to gather preliminary evidence of the short-term (8 week) impact of mycophenolate mofetil on clinically relevant features of JNCL as measured by the UBDRS, including motor features, seizures, behavior, cognitive and functional measures.


  • Ages Eligible for Study: 6 Years to 25 Years
  • Genders Eligible for Study: Both
  • Accepts Healthy Volunteers: No

Inclusion Criteria:

  • JNCL as determined by a characteristic clinical presentation and confirmatory genetic evidence.
  • Able to walk 10 feet without assistance beyond that required due to vision impairment.
  • Between 6 years and 25 years of age.
  • Subjects with local treating clinician (pediatrician or neurologist) willing to conduct the trial according to the protocol, good clinical practice, and applicable regulations.
  • Subjects with a parent/legal guardian willing to accompany them to all study visits, oversee study drug compliance, and monitor and report to local treating clinician/investigator and the URBC investigative personnel any signs of adversity.

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Announcing the First Controlled Clinical Trial for Juvenile Batten Disease


After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants from the Food and Drug Administration (FDA) and the Batten Disease Support and Research Association (BDSRA). The trial will examine whether mycophenolate mofetil, a drug FDA-approved to suppress the immune system and prevent organ rejection in children, is safe for these children and whether it can slow or halt the progression of the fatal neurodegenerative disease.

“Families have been anxiously awaiting word on when we could launch this clinical trial,” said Frederick Marshall, M.D., principal investigator of the trial and Associate Professor of Neurology. “Juvenile Batten Disease is very rare, but the families are very close and well-informed about potential treatments. They have been watching the progress of this research and hoping for the day when we could launch the trial.”

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Gene Therapy Clinical Trial for Late Infantile Batten Disease has Started


Detailed Description:

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 and showed small, but significant benefits to the recipient. 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 will slow down or halt progression of the disease as assessed by neurological rating scales and quantitative MRI (primary variables).

The investigators have recently completed a study in which the normal copy of the gene was surgically delivered to 12 locations in the brain in 10 children with LINCL. The children were assessed by a number of neurological and imaging parameters prior to and after gene transfer. The data demonstrated that the gene transfer was well tolerated and had a small but significant impact on the progression of the disease and suggested that higher doses and a better delivery system may provide greater benefit. The previous study used the viral gene transfer vector adeno-associated virus type 2 (AAV2) at a dose of 2,000,000,000,000 molecules of the drug (2 x 10^12 particle units). The investigators now propose a very similar study with delivery of the identical payload with a slightly different viral gene delivery system based on the virus AAVrh.10. In animal models of LINCL, this new delivery system was much more effective giving better spread of the gene product and improving survival greatly.

Contact: Charleen Hollmann, PhD 646.962.2672 chollman@med.cornell.edu
Contact: Mary Yeotsas, BA 646.962.4563 mey2003@med.cornell.edu

Weill Cornell Medical College
New York, New York, U.S., 10021

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