Ask the Scientists

Join The Discussion

What is the context of this research?

Batten disease is a rare genetically inherited disorder which belongs to a group of progressive degenerative neurometabolic disorders (NCLs). NCLs are characterized by genetic mutations which disrupt cells' ability to dispose of wastes, resulting in the abnormal accumulation of certain proteins and lipids within the nerve cells of the brain and other tissues of the body, resulting in progressive neurological impairment.

Mutations in at least eight different genes are known to cause Batten disease. Charlotte and Gwenyth have been diagnosed with Late Infantile Batten disease, caused by mutation(s) in the CLN6 gene. This particular variant is extremely rare, but we have located one scientist in New Zealand that has been able to treat CLN6 in the sheep model.

What is the significance of this project?

Batten Disease and other forms of NCL are extremely rare, occurring in an estimated 2 to 4 of every 100,000 live births in the United States. Late Infantile Batten Disease, particularly CLN6, which Charlotte and Gwenyth have, is especially rare. It is estimated that less that 10 children are currently living with this variant.

Depending on the variant, Batten patients' life expectancies can range from as young as 6 to adulthood. Most children fighting CLN6 do not live past the age of 12. Our first goal is to find a successful treatment for CLN6. The ultimate goal is to cure all forms of Batten Disease. Finding treatments that enable children with Batten disease to live longer and healthier lives impacts thousands of other rare diseases that affect millions of people worldwide.

What are the goals of the project?

With the help of our scientific advisory board, we've designed a research plan to tackle CLN6. We will be investing in three major research areas: small molecule drug screening, ex vivo gene cellular therapy, and increasing the efficacy of one study that was successful at treating CLN6 in the sheep model.

With $1 million dollars, we will hire a team of doctors and scientists committed to conducting research to treat CLN6. This funding will allow them to begin the research phase immediately.