Batten disease, also called neuronal ceroid lipofuscinosis (NCL), is a progressive and severe inherited nervous system disorder that typically develops during childhood.

Currently, no cure exists for Batten disease, but research into new and potential therapies such as stem cells continue to offer hope.

What are stem cells?

Our bodies are made of many types of cells specialized that carry out specific functions. Generally, a specialized cell is fixed to its fate, and can only divide and produce similar cells.

A stem cell has the potential to generate or develop into several different types of cells. The range of cells that a stem cell can produce will depend on where it was harvested from, its source.

Embryonic (or pluripotent) stem cells, as its name implies, are harvested from eggs fertilized outside the body and have the advantage of developing into virtually any type of cell. But ethical questions surround their use. Adult stems cells are more limited are more limited in both numbers (found in adult tissue) and the cells they can produce, although science is finding they can be altered — genetically re-engineered to produce a greater variety of cells and show properties of embryonic stem cells (called induced pluripotent stem cells). These are in their infancy and have not been used in clinical trials yet.

Generally, though, adult stem cells like hematopoietic stem cells can be harvested from the bone marrow, and have the potential to become a range of different blood cells. Neural stem cells, likewise, can develop into a range of cells of the nervous tissue.

How stem cell therapy works

For a stem cell transplant, healthy stem cells are harvested, often from a healthy donor, and cultured in the laboratory to become specific types of cells, like muscle or nerve cells. These cultured cells are then administered to the patient. Patients given a dose of stem cells will generally have to undergo immunosuppressive treatment, to prevent the immune system from rejecting and destroying the transplanted cells.

In Batten disease, it is hoped that stem cell therapy can be used as a treatment in one of two ways:

  1. Stem cells containing a functional copy of the mutated gene may produce the missing protein in the patient’s body. This is called cross-correction.
  2. Healthy stem cells that may develop into, and eventually replace, diseased or defective cells in the patient. This may repair damaged tissues.

Stem cell therapy in clinical trials

Clinical trials of stem cell therapies have been carried out in some types of Batten disease, and preclinical studies in animals are ongoing to improve the approach.

A first-in-human Phase 1 open label study (NCT00337636), run by StemCells, tested the safety of a neuronal stem cell therapy. The stem cells were derived from the human central nervous system (CNS).

The trial enrolled six children with advanced infantile or late-infantile forms of Batten disease in Oregon, with mutations in either the PPT1 or TPP1 gene. The children were given a single, high or low dose of stem cells surgically delivered directly to the brain, and were monitored for up to one year following treatment.

The results, published in the Journal of Neurosurgery: Pediatrics, suggested that the procedure was well-tolerated, with no serious adverse events reported due to treatment. But no significant improvement in symptoms was seen. But all patients were in later stages of the disease and the approach may be more beneficial in patients in earlier disease stages.

StemCells intended to run a second Phase 1b trial (NCT01238315) in patients in the earlier stages of the disease but was unable to enroll enough patients. The company discontinued its Batten disease program in 2011.

A Phase 1 trial (NCT01586455) is now investigating the safety of stem cells harvested from the human placenta, combined with stem cells from umbilical cord blood. This trial has recruited 43 patients with a range of disorders, including Batten disease, at multiple U.S sites. The trial is expected to conclude in December 2019.

A group in Finland administered hematopoetic stem cells to three infantile Batten disease patients prior to the onset of disease symptoms. Results, published in the journal Neurology, showed that the treatment was unsuccessful at preventing disease progression, with all three developing the disease when they were 2 or 3 years old.

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