Trial readiness in POLG-associated ataxia

Goals:
-  Prospective, multicentric assessment of the natural progression of POLG ataxia for delineation of sensitive clinical progression markers
-  Development of imaging, movement-related and fluid biomarkers reflecting progression of disease
- Sample size estimation for interventional trials

Description:
Trial readiness in ultra-rare diseases like ataxia due to mutations in the mitochondrial polymerase gamma (POLG) require global collaboration to gather representative cohorts for both establishing the prerequisites for the planning of interventions and performing interventional trials.

Building on the experience of a retrospective natural history study in POLG-associated ataxia (Bender et al, under review) we propose a comprehensive approach to reach trial readiness in POLG ataxia including:
(1) Annual visits following a highly standardized protocol including SARA and INAS (obligatory) as well as SCAFI, fall and seizure diary, quality of life, fatigue, depression and cognitive function (optional)
(2) Acquisition of MRI according to a harmonized ARCA global protocol for quantitative assessment of cerebral and cerebellar atrophy as well as white matter changes
(3) Biobanking including DNA (obligatory), serum, plasma and PBMC according to network-wide standards
(4) Additional procedures like quantitative movement recordings, nerve conduction studies, EEG and eye movement recordings are optional but with uniform protocols across centers

We are looking for:
you to join this multicentric study.

We can help you out with:
information about how to join and how to set up your clinical visits to contribute to this project.

Cohorts used POLG-associated ataxia
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:
Friedemann Bender
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany

Ludger Schöls
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, Tübingen, Germany

Further project partners:
Mario Cornejo-Olivas
Instituto Nacional de Ciencias Neurológicas, Lima, Peru