Clinical trial NCT02440763: The EUROSCA Natural History Study
Official title: The EUROSCA Natural History Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Spinocerebellar Ataxia
Keywords: Natural History
Lead sponsor: Ataxia Study Group
Sponsor class: OTHER
First posted: 2015-05-12
Enrollment: 400
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with spinocerebellar ataxia type 1,2,3 and 6.

Brief summary: The key goals of EUROSCA-NHS is to determine and compare the rate of disease progression in SCA1, SCA2, SCA3 and SCA6 including determination of the order and occurrence of non-ataxia symptoms, assessment of activities of daily living (ADL) and quality of life (QoL), and identification of predictors of disease progression and survival.

Detailed description: The key goal of EUROSCA-NHS is to determine and compare the rate of disease progression in SCA1, SCA2, SCA3 and SCA6. To this end, a newly developed and validated ataxia scale (Scale for the Assessment and Rating of Ataxia, SARA) will be used. EUROSCA-NHS has a number of secondary aims including determination of the order and occurrence of non-ataxia symptoms, assessment of activities of daily living (ADL) and quality of life (QoL), and identification of predictors of disease progression and survival. Substudies will deal with the development of brain atrophy, as assessed by magnetic resonance imaging (MRI), progression of peripheral neuropathy, as assessed by nerve conduction studies, and specific clinical aspects of SCA.

Eligibility criteria: Inclusion criteria:

* Progressive, otherwise unexplained ataxia
* Positive genetic testing for SCA1, SCA2, SCA3, and SCA6
* Written informed consent by the patient or his legal agent

Exclusion criteria:

None.

Primary outcomes:
measure: Scale for the assessment and rating of ataxia (SARA)
timeFrame: Patients are first seen at a baseline visit, followed by annual visits for 3 years scheduled ± 3 months around the specified time point. After the initial 3 year observation period, visits are done at irregular intervals each time they went to hospital.
Secondary outcomes:
measure: Disease stages
timeFrame: Patients are first seen at a baseline visit, followed by annual visits for 3 years scheduled ± 3 months around the specified time point. After the initial 3 year observation period, visits are done at irregular intervals each time they went to hospital.
measure: Inventory of non-ataxia signs (INAS)
timeFrame: Patients are first seen at a baseline visit, followed by annual visits for 3 years scheduled ± 3 months around the specified time point. After the initial 3 year observation period, visits are done at irregular intervals each time they went to hospital.
measure: UHDRS part IV
timeFrame: Patients are first seen at a baseline visit, followed by annual visits for 3 years scheduled ± 3 months around the specified time point. After the initial 3 year observation period, visits are done at irregular intervals each time they went to hospital.
measure: EQ-5D
timeFrame: Patients are first seen at a baseline visit, followed by annual visits for 3 years scheduled ± 3 months around the specified time point. After the initial 3 year observation period, visits are done at irregular intervals each time they went to hospital.
measure: PHQ-9
timeFrame: Patients are first seen at a baseline visit, followed by annual visits for 3 years scheduled ± 3 months around the specified time point. After the initial 3 year observation period, visits are done at irregular intervals each time they went to hospital.
Other outcomes:
Locations:
city: Innsbruck
country: Austria
facility: Department of Neurology, Medical University, Innsbruck
city: Brussels
country: Belgium
facility: Université Libre de Bruxelles (ULB), Neurology Service - ULB Hôpital Erasme, ULB Laboratory of Experimental Neurology
city: Paris
country: France
facility: Hôpital de la Pitié-Salpêtrière, Département de Génétique
city: Bochum
country: Germany
facility: Department of Neurology, St. Josef Hospital, University Hospital of Bochum
city: Bonn
country: Germany
facility: Department of Neurology, University of Bonn
city: Essen
country: Germany
facility: Department of Neurology, University Clinic Essen, University of Duisburg-Essen
city: Frankfurt
country: Germany
facility: Department of Neurology, University of Frankfurt
city: Tübingen
country: Germany
facility: Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tübingen
city: Pecs
country: Hungary
facility: Department of Medical Genetics, University of Pecs
city: Zalaegerszeg
country: Hungary
facility: Department of Neurology, Zala County Hospital
city: Milan
country: Italy
facility: Fondazione-IRCCS Istituto Neurologico Carlo Besta
city: Naples
country: Italy
facility: Department of Neuroscience, Federico II University Naples
city: Nijmegen
country: Netherlands
facility: Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour
city: Warsaw
country: Poland
facility: Institute of Psychiatry and Neurology
city: Santander
country: Spain
facility: University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria
city: London
country: United Kingdom
facility: Institute of Neurology
Study officials:
References:
citation: Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hubsch T, Schols L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S. Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study. Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.
citation: Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hubsch T, Schols L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol. 2015 Nov;14(11):1101-8. doi: 10.1016/S1474-4422(15)00202-1. Epub 2015 Sep 13.