Functional characterization and rehabilitative approach on rare autosomal recessive ataxias

- Characterize the functioning profile of rare autosomal recessive ataxias and test and validate goal oriented rehabilitative protocols.

These rare/ultrarare conditions risk to be left orphan of a goal orienteed and evidence based rehabilitative approach: the only intervention now being usually delivered.

If data are pooled together and results confronted among clinics around the world in a shared holistic appraisal of needs using as roadmap the WHO classification of functioning disability and health (ICF) and a SMART goal setting, this could result in a clincial functional grouping of very rare conditions sharing similar functioning profiles and rehabilitative needs, and be translated into greatly improved efficacy of interventions.

The project will be developed in stages:
(1) The first implies gathering systematic information on the functional profile of a large number of ARCA subjects using any assessment method validated and appropriate but then translated into ICF codes, with the attention to inlcude in the evaluation the envronmental impact/modulation on functioning (which might be remarkably country/culture sensitive);
(2) The second aims at identifying areas of needs addressable by rehabilitative intervention and to frame intervention goals which have SMART qualities;
(3) the third will test a given and selected set of interventions and assess their efficacy;
(4) the fourth will aim at designing treatment recommedations for reahabilitative treatment for the various ARCA forms

We are looking for: experts in neurorehabilitation and clinicians following patients with rare ARCA

We can help you out with: providing a meeting environment for cure and care expertise

Cohorts used Patients with molecularly characterized rare ARCA
Funding available? Still to be sought
Trial readiness category 2:     setting the stage for trial readiness (general cohorts, outcome measures or treatment approach identification)

Contact person:
Andrea Martinuzzi
IRCCS Medea Scientific Institute, Milan, Italy

Further project partners:
Louise Corben
Murdoch Children's Research Institute, Parkville, Australia
Martin Delatycki
Murdoch Children's Research Institute, Parkville, Australia
David Szmulewicz
Royal Victorian Eye and Ear Hospital, East Melbourne, Australia