What Is Batten Disease? All About The Fatal Genetic Conditions Causing Waste Build Up In Kids Brain

A life-saving medicine for children with Batten disease, a rare and fatal genetic disorder, is set to be pulled from the market because of unresolved pricing negotiations. Otherwise called CLN2, Batten disease causes devastating symptoms, including seizures, loss of mobility, blindness, and worsening dementia, with a life expectancy of around 10 to 12 years. In the UK, approximately 40 children are currently undergoing treatment under a Managed Access Agreement (MAA) between NHS England and BioMarin, the pharmaceutical company that makes the drug. But with the agreement about to end, families worry about losing the sole existing treatment that will slow the disease's progression.

Batten disease is one of the rarest and most destructive neurodegenerative illnesses in children. The inherited disease results in a buildup of waste products in brain cells, producing worsening neurological deterioration, seizures, loss of speech, blindness, and premature death. With no treatment and limited therapies, Batten disease is a devastating diagnosis for families everywhere.

What is Batten Disease?

Batten disease, or neuronal ceroid lipofuscinosis (NCL), is a term used to describe a series of lethal genetic disorders that affect the body's ability to remove waste from cells. Toxic compounds then build up in brain cells and cause them to malfunction and die.

Kids with Batten disease can develop normally for several years of life, but as the accumulation of waste continues, symptoms become sudden. The disease ultimately takes away the children's ability to walk, speak, see, and even identify their loved ones. The majority of kids with Batten disease don't live past their teens.

What Causes Batten Disease?

Batten disease is a hereditary disorder that results from mutations in genes, which interfere with proper cellular functioning. The condition has an autosomal recessive mode of inheritance, such that the child inherits two copies of the faulty gene—one from each parent—before the disease sets in. Only one copy of the gene in the parents often has no manifestation, but it gives them a 25% probability of passing on the disorder to the offspring during each conception.

Symptoms of Batten Disease

Batten disease varies in how it affects each child, but symptoms may include:

• Seizures and epilepsy
• Loss of vision to complete blindness
• Speech and language problems
• Loss of motor function, leading to an inability to walk and eventual paralysis
• Cognitive impairment and loss of memory
• Changes in personality and psychiatric disturbances such as aggression or anxiety
• Dementia-like features at an early age
• Extrapyramidal features such as tremor, rigidity, and restlessness

The rate at which the symptoms develop differs from child to child, but the ultimate outcome is always tragic—complete neurological degeneration and premature death.

How Common Is Batten Disease?

Batten disease is very rare, with a prevalence of about 3 cases per 100,000 births in the United States. In the UK, only about 40 children are being treated for the condition, and one to six children are born with Batten disease each year.

Treatment Options: Is There Any Hope?

Currently, there is no cure for Batten disease. Nevertheless, medical research has produced some encouraging treatments:

Enzyme Replacement Therapy (ERT): Brineura, a medication by BioMarin, is the sole treatment approved for one type of Batten disease (CLN2). It slows disease progression but neither halts nor reverses damage.

Gene Therapy: Scientists are exploring gene therapy methods that will replace faulty genes with normal genes. This is still in the experimental phase.

Supportive Care: Because there is no certain cure, treatment is largely symptom management by way of anti-seizure medications, physical therapy, speech therapy, and mobility and communication assistive devices.

Challenge To Access to Treatment

One of the big issues with Batten disease treatment is accessibility. The sole drug available, Brineura, has a colossal price tag—at more than £500,000 per patient annually. This has made temporary access in the UK possible after an agreement under a Managed Access Agreement (MAA) between the National Health Service (NHS) and BioMarin, but the agreement is to lapse in May unless fresh negotiations are successful.

The expense of treatment is so high that it generates ethical and economic arguments over whether life-prolonging treatments for ultra-rare conditions should be provided despite the cost. For families with Batten disease, the prospect of losing access to this life-prolonging treatment is horrific.

Unfortunately, the prognosis for children with Batten disease is poor. The disease is always terminal, with life expectancy differing based on the particular type of Batten disease. The majority of children diagnosed with the disorder do not live beyond their teenage years.

As the disease advances, children lose the capacity to speak, move, and identify people they love. Ultimately, organ failure occurs, resulting in premature death. Though research continues in hopes of developing improved treatments and eventually a cure, the reality for Batten disease families at present is heartbreakingly challenging.

Batten disease is a heartless and unrelenting disease that robs children of their potential and families of their dreams. With the progress of science, there remains hope that gene therapy and other new treatments could one day provide a cure. Until then, awareness, advocating for affordable treatment, and funding research are imperative steps in the battle against Batten disease.

Until then, suffering families and doctors must endure the hardship of this lethal disorder, awaiting a turning point that will revolutionize the destiny of children afflicted with Batten disease.