laboratory specialized in the treatment of rare neurological diseases

> Batten disease

Juvenile Batten disease or Spielmeyer-Vogt disease, also known as CLN3 disease, is a genetic lysosomal disease affecting mainly the nervous system. Batten disease is a rare genetic disease affecting the metabolism of the central nervous system and systematically fatal, characterized by the pathological accumulation of glycosphingolipids in the brain. It affects about 1,500 patients in Europe and the United States.

Within lysosomal diseases, juvenile Batten disease belongs to a larger group of diseases called neuronal ceroid lipofuscinoses (NLC). More than 400 mutations in 13 genes have been associated with NLC variants, all of which show impairment of lysosomal function and are similar in clinical presentation. However, they differ from each other clinically in the age of onset of the first symptoms as well as in the speed of disease progression, these clinical differences being explained by the fact that each mutation will affect a different lysosomal protein. Among NLCs, only NLC2 currently benefits from a treatment, Brineura® from the biotechnology company Biomarin, this drug having been approved in 2017.


Juvenile form of Batten disease (CLN3):

  • Autosomale recessive disease
  • Diagnosis in children aged 4 to 8 ans
  • Symptoms: blindness, cognitive decline and loss of motor skills
  • Approximately 3000 patients worldwide for all CLN mutations (including CLN3 which is the most frequent)
  • No treatment available today and few competitors in clinical development