Learn About Batten
New research has advanced scientific medicine, leading to clinical trials and the promise of advanced treatment.
While we assemble the "A Team" of the world’s leading researchers to find a cure for Batten disease, quality of life is equally important for those currently living with the diagnosis.
FAQ
What is Batten disease?
Batten disease is a rare, genetically inherited disorder that belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (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 (fats) within the nerve cells of the brain and other tissues of the body. This results in progressive neurological impairment, including developmental regression, seizures, blindness, behavior changes, and dementia.
There are many forms of NCL. Mutations in at least eight different genes are known to cause Batten disease.
Helen has been diagnosed with Late Infantile Batten disease caused by a deficiency of the enzyme TPP1, which is responsible for breaking down certain proteins in the lysosomes.
What are the symptoms of Battens and CLN2, and when do they become apparent?
The different variants of the disease are distinguishable from one another in part by the age at which symptoms appear. Symptoms can appear as early as 6 months and as late as 43 years old.
Children affected by CLN2 (Late Infantile Batten disease), like Helen, typically see symptoms between ages 2 and 4 and include seizures, coordination challenges, progressive vision loss, and developmental regression.
Is there a cure?
Not YET. We aim to change that.
Fortunately, thanks to the extraordinary efforts of foundations like this and scientists willing to commit their lives to the advancement of a treatment for this disease, CLN2 can now be treated with an Enyzme Replacement Therapy (ERT) called Brineura (BioMarin). ERT promises to dramatically slow progression of the disease and improve quality of life, but it is not a cure.
What kind of research are you interested in exploring?
There are several promising areas that we are exploring with the help of some of the world best. These areas include:
Cellular Therapy
This involves research into therapies involving stem cells. These cells are customized and then applied to any damaged areas of the brain.
These therapies if proven would have significant impact on all those suffering from Batten but also provide hope for neurodegenerative disorders of many different types. This research is exceptionally expensive.
Enzyme Replacement Therapies
While the therapy available from BioMarin (Brineura) is a great step in the right direction, it does not currently cure the disease nor is it able to handle symptoms related to eyesight or areas outside of the brain. Further research into dosing, frequency, or use within the eye is promising, and studies are ongoing.
Gene Therapy
Gene therapy involves actually replacing the mutated gene, restoring its ability to function as intended. This is difficult, as you need to both get to and properly fix the mutated gene. Getting there has advanced with the use of AAV viruses and their natural ability to infect the cell and thereby bringing the genetic correction.
There is much research underway in this area, yet sadly there is quite a bit of promising research which has been halted due to funding shortages. With your help we can kickstart some research currently on the shelf and get new research moving.
Small Molecule Therapy
Small molecule therapy involves leveraging existing FDA-approved drugs for other diseases in new and novel ways to combat CLN2 and Batten disease. This research is promising as it leverages existing drugs and therefore greatly accelerates their use in clinical trials.
ASO Treatments
ASO treatment can be used in several ways - reducing toxic proteins, restoring protein function and/or targeting specific genes by silencing those involved in the disease. In this sense, the ASO allows the body to "skip" the affected mutation restoring function. There are exciting developments in this area which require significant investment to continue.
How Rare is Batten Disease?
Batten disease is rare - occurring in an estimated 2-4 of every 100,000 births.
How is Batten disease inherited?
Batten disease is inherited through an autosomal recessive trait. This means that the same abnormal gene for the same trait is inherited from both parents. Both parents in this case must be carriers and then pass on the abnormal gene. It is estimated that 1/500 individuals carry the abnormal gene. If both parents carry the recessive gene there is a:
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25% chance that their child will be affected by the disease
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50% chance that their child will be a carrier of the disease
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25% chance that their child will not be affected or a carrier
This did not show in our pregnancy genetic testing for either George or Helen.
How is it diagnosed?
Given the disease's rarity it is often misdiagnosed initially as epilepsy or eye disease. The accumulation of common symptoms and, ultimately, a genetic test is the only way to get a definitive diagnosis.
Work is ongoing to allow for earlier screening.
Where can I learn more?
There are a few organizations deeply involved in the Batten community:
The Batten Disease Support and Research Association (BDSRA): https://bdsrafoundation.org
Beyond Batten Disease Foundation:
Batten Disease Family Association (BDFA):
How can I help?
Awareness:
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Get the word out on social media and to friends, family, community or work.
Funding:
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This disease needs funding for a cure.
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Help by giving a tax deductible contribution to the Helen's Pink Sky Foundation.
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Learn more on our Give Page
Get Involved:
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Give time, energy, love, resources, connections. Contact us to learn more!
Make a Donation
Help us help children and their families in the fight for treatment and a cure.
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