Clinical Trials, U.S.: Batten Disease

Batten disease, a rare, fatal autosomal recessive disorder of the nervous system that begins in early childhood, also called Spielmeyer-Vogt-Sjögren-Batten disease, was named after British pediatrician Frederick Batten, who first described the condition in 1903 as the immature form of neuronal ceroid lipofuscinosis (NCL). The disorder consists in the deficiency of the TPP1 enzyme following mutations in the CLN2 gene. Today, a great number of physicians associate the term Batten disease with all forms of NCL.

As of today, there is no treatment for the disease or way to reverse its symptoms, which include seizures, loss of vision, progressive loss of motor skills and sight, and mental impairment. Sometimes anticonvulsants help reduce seizures, and physical therapy allows patients to retain some motor functions, but in the ...