News Releases & Research Results Results from a research on the prognosis of Leigh syndrome in Japan

News Releases & Research Results


The results of collaborative research led by the Department of Metabolism, Chiba Children's Hospital and the Chiba Cancer Center, as well as the Saitama Medical University, Juntendo University, and Nihon University.

The key results of research are as follows:

  • The association between the prognosis and molecular genetics of 166 Japanese patients who were diagnosed with Leigh syndrome (*1) from 2007 to 2017 has been analyzed.
    *1: Leigh syndrome is the most common type of mitochondrial disease in children; it is a congenital metabolic disorder that occurs in 1 in 5,000 children.
  • 75% of the patients have been alive, with a median age of 8 years (range: 1-39 years). The median length of disease course was 91 months for living patients and 23.5 months for deceased patients.  Approximately 90% of deaths occurred by the age of 6.
  • This research results were the first to reveal the detailed natural history of the genes that are responsible for the onset of Leigh syndrome.
  • The findings of research will contribute to the development of novel treatment strategies for Leigh syndrome and advance clinical trials in the field.

This research was conducted with the support of Practical Research Project for Rare/ Intractable Diseases, by AMED.

This research results were published in the Journal of Inherited Metabolic Disease (JIMD), the official journal of the Society for the Study of Inborn Errors of Metabolism, on February 6.


Ogawa E., et al. Mortality of Japanese patients with Leigh syndrome: effects of age at onset and genetic diagnosis Journal of Inherited Metabolic Disease


Last updated 02/06/20