Why in news?
Researchers are developing gene therapy trials for Batten disease, offering hope for affected families. A handful of children in India have been diagnosed recently, raising awareness about this rare condition.
Background
Batten disease refers to a group of inherited disorders known as neuronal ceroid lipofuscinoses (NCLs). These conditions are caused by genetic mutations that prevent cells from removing waste products. As a result, fatty substances called lipopigments accumulate in the brain and other tissues, leading to progressive degeneration.
Types and symptoms
- Onset: Batten disease can appear in infancy, childhood or adulthood, depending on the specific gene affected. The most common childhood form begins between ages 2 and 4.
- Early signs: Children may experience seizures, vision loss, clumsiness and behavioural changes. As the disease progresses, motor and cognitive abilities decline.
- Life expectancy: Most forms of Batten disease are fatal, with children often dying in their teens or twenties. Adults with mild forms may live longer but still face serious neurological challenges.
Diagnosis and management
- Genetic testing: Doctors confirm the diagnosis through blood tests or skin biopsies that identify mutations in genes such as CLN1, CLN2 and others.
- Symptom management: There is currently no cure, so treatment focuses on controlling seizures, providing physical therapy and supporting vision and mobility.
- Research advances: Gene replacement therapy and enzyme replacement therapy are being investigated to slow or halt disease progression. One therapy for CLN2 disease (cerliponase alfa) has received regulatory approval abroad.
Conclusion
Batten disease is devastating for patients and families, but increased awareness and research funding are paving the way for potential treatments. Early diagnosis through newborn screening could improve outcomes in the future.