Clinical Trial for Children with Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)
The University of Rochester Medical Center is currently recruiting subjects with JNCL for a clinical trial. This research study will focus on evaluating whether an investigational drug is safe and well tolerated in children with JNCL. Mycophenolate mofetil (also known as Cellcept) is a medication that suppresses the immune system. The study is 22 weeks long with a total of 12 study visits. Four visits require travel to University of Rochester Medical Center in Rochester, New York. Four visits will be with your child’s local physician. Four visits will take place by telephone. Travel costs will be covered by the study. Children enrolled in the study will take mycophenolate syrup twice a day, and will have blood drawn at each study visit.
Clinical Trials Development
a workshop was held by the National Institutes of Neurological Disorders
and Stroke on the subject of GAD65 autoimmunity in Batten disease. At
the conclusion of this workshop, participants suggested that that use
of intravenous human immunoglobulin (IVIG) may represent a means of slowing
the progression of this disease. A summary of this workshop was recently
published in the journal Neurology. A PDF file of this article can be
accessed at the bottom of this page. The Batten Disease Diagnostic and
Clinical Research Center is working to establish the infrastructure and
means to perform clinical trials for Batten disease.
Initiating a clinical trial is not trivial. Many things must be in place before we can hope to be successful. Careful planning is critical to the success of any clinical trial. We have taken initial steps by developing a rating scale that can be used in future clinical trials to obtain reliable quantitative outcome data. The “Unified Batten Disease Rating Scale” (UBDRS) will be a key component of any clinical trial. We have undertaken reliability testing of the scale with positive results. Refinement of the UBDRS is ongoing with validity testing and longitudinal evaluation. The success of this rating scale depends upon participation of patients and their parents and/or care providers, and the development of a clinical triall for Batten disease depends upon accurate genetic and clinical assessment of the patients. A goal of our center is to provide accurate diagnosis and clinical assessment of children with Batten disease. Subsequently, we will work to modify the scale for other forms of NCL.
Currently there is no established effective treatment for JNCL. Children with JNCL possess autoantibodies to neuronal proteins, one of which has been identified as GAD65. As discussed at the workshop above, it has been proposed that if these autoantibodies are contributing to the pathophysiology of JNCL, a clinical intervention to block the action of these antibodies may slow or prevent disease progression. A potential agent with this action is IVIG. There are other treatments with potential to suppress the immune system, but IVIG is better tolerated than many of these other options and is the treatment of choice for several diseases. IVIG has been used successfully to treat many other immune-mediated diseases in children and adults, but it has not been used for JNCL. As we improve our understanding of other mechanisms in Batten disease, other potential therapies will be considered.