Stem cells to treat in neuronal ceroid lipofuscinosis (Batten disease) is underway

Stem cells are being tested in the treatment of the rare genetic disorder Batten disease.

StemCells, Inc is seeking permission from US FDA to start a second clinical trial of its proprietary HuCNS-SC human neural stem cells in neuronal ceroid lipofuscinosis (NCL), which is also often referred to as Batten disease.

Neuronal ceroid lipofuscinosis (NCL) is a genetic disorder characterized by the absence of a critical enzyme, which leads to the loss of neurons and the eventual death of the patient.

StemCells has completed a phase-I clinical trial in neuronal ceroid lipofuscinosis (NCL) in January 2009 and reported the results to the US FDA in September 2009.

“Our first NCL trial was focused primarily on safety, and our data showed that the cells, the immunosuppression regimen and the procedure were all well tolerated,” stated Stephen Huhn, FACS, FAAP, vice president and head of the CNS program at StemCells, Inc in a press release.

StemCells studies have shown that HuCNS-SC cells produce the enzyme missing in neuronal ceroid lipofuscinosis (NCL). So the strategy is to transplant HuCNS-SC cells and have them provide enough enzyme to keep the patient’s own neurons intact and functioning, he added.

The proposed new trial is designed to further assess the safety of HuCNS-SC cells in NCL, while also examining the ability of the cells to affect the progression of the disease.

StemCells plans to enroll six patients with infantile and late infantile neuronal ceroid lipofuscinosis. Because intervention prior to the final stages of the disease will likely be key to providing a therapeutic benefit.

The company plans to enroll patients with less brain atrophy than those enrolled in its first trial.

Under the proposed protocol, all patients would be transplanted with HuCNS-SC cells and immunosuppressed for nine months. The patients would also be evaluated and assessed at regular intervals over the course of 12 months following transplantation.

A separate four-year observational study would be initiated at the conclusion of this trial.

StemCells’ lead product candidate, HuCNS-SC cells, is a highly purified composition of human neural stem cells that are expanded and stored as banks of cells.

StemCells is engaged in the research, development, and commercialization of stem cell therapeutics and enabling technologies for use in stem cell-based research and drug discovery.

StemCells also markets specialty cell culture products under the SC Proven brand, and is developing stem cell-based assay platforms for use in pharmaceutical research, drug discovery and development.

What is neuronal ceroid lipofuscinosis (Batten disease)?

Neuronal ceroid lipofuscinosis (NCL) is a fatal neurodegenerative disorder that afflicts infants and young children.

The disorder, often referred to as Batten disease, is caused by genetic mutations, and children who inherit the defective gene are unable to produce enough of an enzyme that processes cellular waste substances that accumulate in a part of cells known as the lysosome.

Without the enzyme, the cellular waste builds up, and eventually the cells cannot function and die. Children with NCL appear healthy when born, but as their brain cells die, they begin to suffer seizures and progressively lose motor skills, sight and mental capacity. Eventually, they become blind, bedridden and unable to communicate or function independently.

There currently is no effective treatment for the disease. The infantile and late infantile forms of NCL are caused by different genetic mutations. As the names imply, the two forms begin to afflict patients at different stages of infancy, but both have similar disease progression and outcomes.