UNIFAI

Friedreich's ataxia (FA) is the most frequent early-onset autosomal recessive 
hereditary ataxia. The GAA-repeat expansion leads to a progressive 
neurodegenerative disease, characterized by progressive (sensory) ataxia, 
spasticity and sensomotor polyneuropathy. Hypertrophic cardiomyopathy and 
diabetes mellitus often occur in association with the disease. Patients 
gradually lose coordination and are frequently wheelchair bound as adolescents. 
There is no disease modifying therapy and average life expectancy ranges from 
40 to 50 years, with many patients dying prematurely of cardiomyopathy. 
Friedreich's ataxia is a rare disease, leaving single hospitals to have limited 
options for clinical or genetic research. By coordinating their efforts, UNIFAI 
gathers vital information about the progression of Friedreich's ataxia which 
can be delivered to patients to give them a better knowledge of their prognosis 
and the development of their condition.

To generate a large, international Friedreich*s ataxia patient database
(including healthy controls), alongside an integrated clinical and natural
history database, which is linked to a biological samples and imaging
repository, hereby creating a large trial-ready cohort for possible future
intervention studies.

A multicenter, prospective, observational natural history study of Friedreich ataxia. 

NA

The burden for participants consists of annual visits, including a neurological 
examination, several questionnaires taking a blood sample. Optional are 
undergoing a MRI or cardiac evaluation. All measurements are without 
significant side effects ("negligible risk"). 
These type of natural history cohorts are important for increasing 
understanding of the disease and provide viable information for future trials 
with possible disease-modifying therapies.