Recently,
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.
Clinical
Trials Development
