The Upper Limb Cardiopulmonary Exercise Test in Autosomal Recessive Ataxias

Goal:
- Explore the feasibility of upper limbs CPET in patients with autosomal recessive ataxias with putative mitochondrial disfunction, and to compare the results with sex, age and BMI matched healthy controls

Description:
There are no validated markers that allow for an in-vivo evaluation of mitochondrial functionality in patients with autosomal recessive ataxias. The cardiopulmonary exercise test (CPET) is the gold standard for the direct assessment of maximal oxygen uptake (VO2max), peak workload, and for the non-invasive evaluation of the anaerobic threshold (AT), during a standardized exercise. VO2max reflects the maximal ability for the human body to deliver, obtain and consume oxygen during maximal exercise. The AT describes the moment at which a change from aerobic to anaerobic metabolism occurs.

We studied 55 FRDA and 54 age, gender, and BMI matched healthy controls (HC) with the upper limbs CPET. We found that FRDA patients have a strong disfunction in aerobic metabolism, and a clear reduction in oxygen consumption (31% VO2max reduction, 41% peak workload reduction, AT occurred at 33% of peak workload time in FRDA and at 86% in HC).

Aim of the present study will be to explore the feasibility of upper limbs CPET in patients with autosomal recessive ataxias with putative mitochondrial disfunction, and to compare the results with sex, age and BMI matched HC. The initial selection of ataxias will be directed to ARCA2, ARCA3, ARSACS and SPG7.

We are looking for: Centers specialized in Movement Disorders with an available cooperation with cardiologists/internists capable of performing a cardiopulmonary Exercise Test (CPET)

We can help you out with:  Setting up a protocol with an upper limb CPET, interaction with our internists

Cohorts used ARCA2, ARCA3, ARSACS, SPG7
Funding available? To be sought
Trial readiness category 2:  setting the stage for trial readiness (general cohorts, outcome measures or treatment approach identification)

Contact person:
Francesco Sacca
Federico II University, Naples, Italy