Introduction

Batten disease is a group of rare, fatal genetic disorders. It is also known as neuronal ceroid lipofuscinosis (NCL). It consists of 13 sub-types, and it is passed down through families as a result of an autosomal, recessive genetic mutation affecting the CLN gene. Batten disease affects the body’s ability to break down and get rid of cellular waste, such as lipids, sugars and proteins, leading to the accumulation of waste products. This affects the nervous system and eventually leads to death. Unfortunately, there is no cure for Batten disease. The treatment approaches aim to manage symptoms and improve the patient’s quality of life.¹

Types of batten disease

There are 13 types of Batten disease, their names start with CLN followed by a number from 1 to 14. The classification also depends on the onset of symptoms whether it is developed during infancy, late infancy, childhood or early teenage. all of them are fatal except the early adult Batten disease, which has the same life expectancy as normal adults.

The most fatal subtype is the juvenile batten disease, CLN3.²

Signs and symptoms

All batten disease types share the same symptoms, including:

• Vision loss
• Seizures.
• Cognitive problems.
• Muscle rigidity, spasticity or paralysis
• Dementia
• Behavioural and personality changes
• Heart problems like arrhythmias²

Diagnosis

The diagnosis of Batten disease includes: eye tests, blood tests, skin sampling, electroencephalogram (EEG), and magnetic resonance imaging (MRI). However, the only definitive test to confirm the diagnosis is genetic testing.

Batten disease may commonly be misdiagnosed as autism or epilepsy, due to the symptoms it presents with. 

Treatment approaches

There is no cure for Batten disease at the moment, and treatment is only available for some sub-types. However, your healthcare provider might prescribe medications to help manage some of the symptoms, such as anticonvulsants to treat seizures, medication such as Baclofen for spasticity, and occupational therapy and physiotherapy for behaviour, helping individuals to retain functioning for as long as possible. 

Cerliponase alfa 

Enzyme replacement therapy is now available for children with the CLN2 mutation, which slows the effect of the disease on motor, language and visual decline.³ Cerliponase alfa is the only FDA-approved drug for Batten disease CLN2.⁴ It is a recombinant tripeptidyl peptidase 1(TPP1), an enzyme deficient in patients with CLN2. It is administered directly into the cerebrospinal fluid (CSF) surrounding the brain and spinal cord via an intraventricular infusion, which is a sterile process to avoid infection. The dose for children 3 years and older is 300mg fortnightly. Patients should receive antihistamines or steroids 30 to 60 minutes before treatment, and electrolytes after Cerliponase alfa therapy.

Adverse effects of Cerliponase alfa:

• Nausea
• Vomiting
• Fever
• Hypersensitivity reaction
• Hypotension
• Bradycardia
• Hematoma
• Injection-site infections
• Change in CSF protein and white blood cell contents

Summary

Batten disease is a fatal genetic disorder that affects children and very rarely, young adults. It includes 13 sub-types, which are categorised by the mutated gene and the age of disease development. The only definitive way to diagnose Batten disease is through genetic testing to locate the mutation involved. Although there is no cure for Batten disease, a recombinant enzyme replacement therapy, Cerliponase alfa, has been approved to help control some of the CLN2 symptoms. Ongoing research into gene therapy and stem cell studies is being conducted to help develop treatments for this disease.