Research Studies and Clinical Trials for Batten Disease

Research Studies and Clinical Trials *

Research studies and clinical trials led by the Department of Genetic Medicine at Weill Cornell Medical College in New York City, by the University of Rochester Batten Center, and by pharmaceutical company BioMarin continue to investigate Batten disease at sites in the United States and Europe.

BioMarin launched a Phase I/2 clinical trial in September 2013 to determine the safety and efficacy of rhTPP 1 (BMN 190), an enzyme replacement therapy for the treatment of children with Late Infantile CLN2 disease. BMN 190 is a recombinant human TPP 1 enzyme in development by BioMarin as an enzyme replacement therapy for CLN2 patients. Patient inclusion criteria include diagnosis of CLN2 disease, and mild to moderate disease documented by two domain scores of 3-6 on motor/gait and language domains of the Hamburg scale with a score of at least one point in these two domains, and seizures are stable. Patients who have received stem cells, gene therapy, or enzyme replacement therapy are not eligible for the study. Patients enrolled in the study follow a 12 month protocol of treatment.

The primary study objectives are to evaluate the safety and tolerability of BMN 190 administered to patients with CLN2 and to evaluate effectiveness using a CLN2-specific rating scale score in comparison with natural history data after 12 months of treatment. The study sites are currently in Germany and the United Kingdom. Updates and study information are available at

The Department of Genetic Medicine at Weill Cornell Medical College in New York City is conducting a gene therapy study for the CLN2 gene. Patients with the diagnosis of late infantile neuronal ceroid lipofuscinosis who score between a 6 and 10 on the LINCL scale in the early stages of the Batten disease are eligible for the study. The purpose of the study is to determine whether gene transfer surgery, in which an experimental drug called AAVrh.10CUhCLN2, is administered to the brain, can be achieved safely and whether the procedure will slow down or halt the progression of the disease. The study site is located in New York City, with study information available at

The University of Rochester Medical Center continues a JNCL clinical trial to learn if mycophenolate (CellCept) is safe and well tolerated in children with Juvenile Neuronal Ceroid Lipofuscinosis. The JUMP study focuses on evaluating CellCept and its effects on the symptoms of JNCL. These symptoms include unusual movements, seizures, problems with learning or behavior, or difficulty performing daily tasks. To be eligible for the study, which lasts 22 weeks, patients must be diagnosed with JNCL, must be able to walk 10 feet unassisted, be able to swallow liquid medication, have a local doctor who is willing to conduct the study, and be able to complete four study visits to the University of Rochester Medical Center. Study information is available by emailing

Patients enrolled in the study will take mycophenolate syrup twice a day. For enrollment information, contact Amy Vierhile at (585) 275-4762. More information about the University of Rochester Batten Center is available at

Research News Updates *

StemCells, Inc. announced in October, 2013 the results of a four-year observation study in patients with neuronal ceroid lipofuscinosis (NCL) who had been transplanted with the company’s HuCNS-SC cells (purified human neural stem cells) in the initial Phase I study. The study results represent the first, and only, multi-year data set of patients after the use of stem cells in human subjects. Six patients with Batten disease were enrolled in the company’s Phase I clinical study and followed for twelve months after the transplantation of stem cells. According to co-principal investigator Nathan Selden, MD, PhD, FACS, the study’s outcome shows there were no long-term safety or tolerability issues associated with the cells, the immunosuppression regimen or the surgical procedure over the five years following the stem cell transplants. Three of the six patients in the study have now survived more than five years post-transplant, and each have stable quality of life measures, according to Selden. For details of the full report go to

Researchers at the National Institutes of Health (NIH) announced in October, 2013 the identification of a potential new drug derived from hydroxylamine, a molecule chemically similar to ammonia, called NtBuHA, which researchers hope will be useful in the treatment of infantile Batten disease. Researchers found after testing a panel of chemically modified hydroxylamines that the derived NtBuHA could mimic PPT1 in cultured cells from infantile Batten patients, preventing the waxy build-up but without the toxic effects of hydroxylamine. The study tested the drug in mice with Batten disease and found it slowed the loss of coordination and extended the animals’ life span. The full research study reported was published in the journal Nature Neuroscience. The full details are available online at