Batten Disease - Treatment

Treatment

In June 1987, a Phase I clinical trial was launched at Weill Medical College of Cornell University to study a gene therapy method for treatment of the signs and symptoms of late infantile neuronal ceroid lipofuscinosis (LINCL). The experimental drug works by delivering a gene transfer vector called AAV2CUhCLN2 to the brain. In 2011, it was reported that the procedure, which involved injecting a harmless gene-bearing virus into the brain, is safe; and that, on average, it significantly slowed the disease's progression during the 18-month follow-up period.

In November 2006, after receiving FDA clearance, neurosurgeon Dr. Nathan Selden, pediatrician Dr. Fredirich Steiner, and colleagues at Doernbecher Children's Hospital at Oregon Health & Science University began a clinical study in which purified neural stem cells were injected into the brain of a six-year-old child with Batten disease, who had lost the ability to walk and talk. This patient was the first of six to receive the injection of a stem cell product from StemCells Inc., a Palo Alto biotech company. These are believed to be the first-ever transplants of fetal stem cells into the human brain. By early December, the child had recovered well enough to return home, and it was reported that there were some signs of speech returning. The main goal of Phase I clinical trials, however, was to investigate the safety of transplantation. Overall, the Phase I data demonstrated that high doses of human neural stem cells, delivered by a direct transplantation procedure into multiple sites within the brain, followed by twelve months of immunosuppression, were well tolerated by all six patients enrolled in the trial. The patients’ medical, neurological and neuropsychological conditions, following transplantation, appeared consistent with the normal course of the disease.