A comprehensive and unique collection of juvenile Batten disease induced pluripotent stem cells has become available. Juvenile Batten disease, also known as neuronal ceroid lipofuscinoses, is the result of a mutation in the CLN3 gene.
The collection is under expansion, but it already has stem cell lines made from fibroblast cells (skin samples) from 24 individuals, including affected patients and family members.
The stem cells were made available for academic researchers focused on Batten’s root cause in neurodegeneration and for industry experts for screening compounds that have shown promise in treating the disease, which currently does not have a cure.
According to a press release, scientists used the NYSCF Global Stem Cell Array to develop the stem cell collection. They made use of an automated robotic technology that standardizes and scales stem cell production and differentiation, enabling the manufacture and analysis of large numbers of identical cells.
Juvenile Batten disease can be caused by more than 40 mutations in the CLN3 gene. Initial symptoms include progressive vision loss, changes in personality, and behavioral and learning problems. These are followed by seizures, dementia, and loss of motor functions, leading to wheelchair use.
Talking can become incomplete or repetitive, and psychiatric problems can develop at any time. Children or young people will eventually no longer be able to swallow on their own, requiring tube-feeding. Eventually, the disease results in premature death.
The new stem cell library may also help the scientific community make progress in other altered CNL3 genetic diseases, such as Parkinson’s disease, inherited blindness, and certain cancers.
The announcement comes several months after Elizabeth and James Chappell, two parents in Springville, Utah, lost three children over three consecutive days to juvenile Batten disease.
Christopher, 20, Elizabeth, 19, and James, 15, passed away in July on a Friday, Saturday, and Sunday, respectively, and were survived by seven other siblings. The youngest sibling, Samuel, also has Batten’s.
“Thus far, efforts to study juvenile Batten disease have used rodent models or human skin cells, neither of which accurately mimic the disease in the brain, leaving researchers without a solid platform for testing drugs that prevent, halt, or reverse its progression,” said Danielle M. Kerkovich, PhD, principal scientist for the Beyond Batten Disease Foundation.
A list of stem cell lines available and information on acquiring the cell lines can be found at http://www.nyscf.org/repository.