Forget Me Knot campaign for International Batten Disease Awareness Day 2025

Batten Disease (also known as Ceroid Neuronal Lipofuscinoses) is a group of rare and fatal genetic conditions affecting the brain and nervous system. It is the most common inherited condition that causes mental decline in children.

Batten Disease (BD) is caused by changes (mutations) in one of at least 12 genes (pathogenic variants). These mutations lead to a buildup of waste material in nerves and other cells because the body can not break it down properly. Over time, this waste damages the brain's cells and causes progressive loss of brain function.

There are different types of BD, but the most common types are CLN2 (also called Late-Infantile) and CLN3 (also called Juvenile).

Symptoms of CLN2 usually start between ages 2 and 4 years. Early signs include loss of coordination, seizures, loss of language and understanding, and vision loss. Children gradually lose skills and independence. Most children live into their early teenage years.

A drug called Brineura can help slow down the disease by replacing the missing enzyme. However, access to this treatment can be difficult due to its high cost.

The first symptom of CLN3 is usually vision loss, which usually begins between the ages of 4 and 7 years. Over time, children experience seizures, learning difficulties, behavioural changes, trouble with moving and walking, and speech difficulties. The life expectancy is usually in the late teens or early 20’s. No specific treatment has yet been approved for CLN3, but therapy is based on managing symptoms.

Batten disease is not part of most newborn screening programmes around the world. This is mainly because it is rare, limited treatment options, and is expensive to screen for.

However, early diagnosis is very important. Raising awareness among the public and healthcare professionals, especially among eye doctors (ophthalmologists) for CLN3, is key because early signs like vision loss can often be missed.

Clinical trials for treatments and gene therapies are taking place. We remain hopeful for a future with better therapies to improve the lives of families living with BD.

Support BD charities;

Batten Disease Family Association (https://bdfa-uk.org.uk/)

Batten Disease Support and Research Association (https://bdsrafoundation.org/)

Batten Disease Support and Research Association Australia (https://bdsraaustralia.org/)

Batten Disease Global Research Initiative (https://battenresearch.org/)

Beyond Batten Disease Foundation (https://beyondbatten.org/)