Pre-FA – A clinical and biomarker study of asymptomatic individuals at risk of developing Friedreich ataxia

Goal:
- To follow-up at-risk individuals for Friedreich Ataxia, consisting of regular clinical examinations with video recordings, inspection of family photos and videos, and collection of samples for biomarker studies

Description:

Friedreich ataxia (FRDA) is the most common ARCA in Caucasians. FRDA is characterized by marked differences in the timing of pathology in the affected proprioceptive, cerebellar, and pyramidal systems. In this context, there is very little information about the pre-symptomatic phase of FRDA, which will become a target of future therapies aimed to prevent or delay clinical onset, and on signs heralding clinical onset. Anecdotical evidence suggest that some impairment of proprioception and possibly signs of pyramidal pathology may be present before overt symptom appear, while clinical onset is likely to correspond to the appearance of frank cerebellar signs. Although FRDA can became symptomatic at very different ages, from early childhood to late adult life, most identifiable at-risk asymptomatic individuals are likely to be children and adolescents with an affected older sibling. Here, a structured follow-up of these individuals is proposed, consisting in regular clinical examinations with video recordings, inspection of family photos and videos, and collection of samples for biomarker studies. Given the young age of these individuals, no invasive procedure or procedure causing pain or discomfort is proposed. Samples for biomarkers can be obtained from residual material of routine clinical samples.

Cohorts used Individuals at risk for FA
Funding available? To be sought
Trial readiness category 2: setting the stage for trial readiness (general cohorts, outcome measures or treatment approach identification)

Contact persons:

Massimo Pandolfo
Department of Neurology and Neurosurgery, McGill University, Montreal, Canada

Further project partners:

TBD