Latest Research
First controlled clinical trial for Juvenile Batten disease to start
May 31, 2011 - 4:00:00 AM

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 (BDRSA). 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.

Juvenile Batten disease is a lysosomal-storage disease that strikes seemingly healthy children and progressively robs them of their abilities to see, reason and move. It ultimately kills them in late adolescence or young adulthood. Batten disease is in the same family of diseases as Krabbe disease to which former Buffalo Bills quarterback Jim Kelly lost his son, Hunter, in 2005.

Juvenile Batten disease is a very rare recessively inherited genetic condition. That means both parents must pass on the abnormal gene in order for a child to develop the disease, but it also means there is a 1 in 4 chance another child in a family has it. Because the onset of symptoms usually occurs sometime between 4- and 8-years-old, parents often have more children before they know they are carriers and before they can obtain genetic counseling.

The trial will enroll 30 patients who are already showing symptoms of the disease. Each child will be their own control during the study, taking the medication for eight weeks, and a placebo for eight weeks. The children will take a break in the middle of the trial to clear the body of medication. Because it is a double-blind study, the researcher-clinicians and the families will not know when the child is taking a placebo or the active medication. Patients will have to travel to Rochester four times over the 22 weeks they are in the trial, which is no small feat, considering the difficulties of traveling with children who may be blind and/or seizure-prone.

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