The two largest case series of Friedrich's ataxia
patients with point mutations have been described by Cossee et al.
The company's lead product, SNT-MC17 (idebenone) is about to enter Phase III for the treatment of Friedrich's Ataxia
, a niche indication for which it has orphan drug designation in both the US and EU.
Their laboratory studies, using mice, suggest that genes involved in iron metabolism, or lack thereof, may be the cause of Parkinson's and other diseases in which excessive brain iron has been noted, such as Friedrich's Ataxia
, Hallervorden-Spatz disease, and multiple system atrophy (formerly known as olivopontocerebellar atrophy).
Anthony suffers from Friedrich's Ataxia
, a terminal genetic condition which leads to speech, sight and hearing slowly fading.
Student Barry, 18, suffers from Friedrich's Ataxia
, which attacks the nervous system.
With the skill of a superb investigative reporter and the talent of a story teller, the author portrays the slow realization that a degenerative disease, Friedrich's ataxia
, has been passed down through many generations over diverse branches of a family tree, many who were strangers to each other.