Batten disease is a rare inherited neurological condition. It affects compartments in the cell called lysosomes, which are responsible for the degradation of substances that are no longer needed.
Over time, patients with Batten disease experience sight loss, seizures, and progressive motor and cognitive decline. Eventually, patients develop dementia, become bedridden, and require 24-hour care.
The life expectancy of Batten disease patients mainly depends on the age of onset of the symptoms. The earlier the onset, the shorter the lifespan. Based on the age of onset, Batten disease can be grouped into five types: congenital, infantile, late infantile, juvenile, and adult.
Congenital Batten disease occurs from birth and is the most severe, but also the rarest, type. Babies with this type of the disease usually die soon after birth.
Infantile Batten disease occurs in infants before age two. Patients with this type usually do not survive beyond age five.
The onset of late infantile Batten disease is between ages two to four. The life expectancy is between ages eight to 10.
Juvenile Batten disease occurs in children between ages five and 10. These patients usually live until their late teens or early 20s.
Adult-onset Batten disease has the best prognosis, and patients’ lifespans are not different from that of people who don’t have the disease.
There is no cure for Batten disease, and disease management focuses on the relief of symptoms. Seizures can be controlled with anticonvulsants. Physiotherapy and occupational therapy can help improve motor skills and coordination.
Researchers are working on many different approaches to develop treatments for various forms of Batten disease.
For some types of late infantile Batten disease, a medication called Brineura (cerliponase alfa), approved by the U.S. Food and Drug Administration (FDA), can be used. Brineura is an enzyme replacement therapy and delivers the TPP1 enzyme that is mutated in this type of the disease, to the body. Research has shown that treatment with Brineura slows patients’ loss of walking ability.
Two small molecule therapies for certain types of late infantile Batten disease are at preclinical stage. PLX-200 increases the expression of the enzyme that is missing in this type of the disease. PLX-100 is a combination of PLX-200 and retinoic acid. Both medications delayed loss of mobility and increased lifespan in preclinical studies using mouse models. PLX-100 and PLX-200 recently received orphan drug designation from the FDA, and clinical trials are being planned for both treatments.
Several clinical trials to treat different types of late infantile Batten disease are ongoing: (NCT01414985, NCT01161576, and NCT00151216). The third trial already produced some results showing that neurological decline was reduced in treated patients compared to controls.
Two gene therapy medications by Abiona Therapeutics, ABO-201 to treat a type of Batten disease called CLN3 disease and ABO-202 to treat another type called CLN1 disease, showed promising results in preclinical studies and clinical trials are planned to start soon.
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