NCT02440763

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.

Trial Health

88
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
400

participants targeted

Target at P75+ for all trials

Timeline
294mo left

Started Jul 2005

Longer than P75 for all trials

Geographic Reach
10 countries

16 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress46%
Jul 2005Jul 2050

Study Start

First participant enrolled

July 1, 2005

Completed
9.8 years until next milestone

First Submitted

Initial submission to the registry

May 1, 2015

Completed
11 days until next milestone

First Posted

Study publicly available on registry

May 12, 2015

Completed
35.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2050

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2050

Last Updated

June 29, 2017

Status Verified

June 1, 2017

Enrollment Period

45 years

First QC Date

May 1, 2015

Last Update Submit

June 28, 2017

Conditions

Keywords

Natural History

Outcome Measures

Primary Outcomes (1)

  • Scale for the assessment and rating of ataxia (SARA)

    Progression of ataxia is measured using a newly developed and validated ataxia scale, SARA. SARA was evaluated in two large validation trials performed by the EUROSCA clinical group and was found to be easy to use, reliable, and valid.

    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 (5)

  • Disease stages

    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.

  • Inventory of non-ataxia signs (INAS)

    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.

  • UHDRS part IV

    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.

  • EQ-5D

    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.

  • PHQ-9

    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.

Study Arms (1)

Spinocerebellar ataxia type 1,2,3 and 6

Spinocerebellar ataxias (SCA) are autosomal dominantly inherited progressive ataxia disorders. An epidemiological study performed in the Netherlands found a prevalence of 3.0 : 100,000 (van de Warrenburg et al. 2002). The SCA´s are genetically and clinically heterogeneous disorders with SCA1, SCA2, SCA3 and SCA6 being the most frequent genotypes worldwide. While SCA1, SCA2 and SCA3 have a complex phenotype, SCA6 patients usually present with pure cerebellar ataxia (Schols et al. 2004). Although precise knowledge of the rate of disease progression is a prerequisite for the biometrical design of future therapeutical trials, prospective studies of the natural history of SCA´s have not been performed. Similarly, the occurrence and evolution of accompanying non-ataxia symptoms have not been studied prospectively.

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with spinocerebellar ataxia type 1,2,3 and 6.

You may qualify if:

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

You may not qualify if:

  • None.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (16)

Department of Neurology, Medical University, Innsbruck

Innsbruck, Austria

ACTIVE NOT RECRUITING

Université Libre de Bruxelles (ULB), Neurology Service - ULB Hôpital Erasme, ULB Laboratory of Experimental Neurology

Brussels, Belgium

ACTIVE NOT RECRUITING

Hôpital de la Pitié-Salpêtrière, Département de Génétique

Paris, France

ACTIVE NOT RECRUITING

Department of Neurology, St. Josef Hospital, University Hospital of Bochum

Bochum, Germany

ACTIVE NOT RECRUITING

Department of Neurology, University of Bonn

Bonn, 53105, Germany

RECRUITING

Department of Neurology, University Clinic Essen, University of Duisburg-Essen

Essen, Germany

ACTIVE NOT RECRUITING

Department of Neurology, University of Frankfurt

Frankfurt, Germany

ACTIVE NOT RECRUITING

Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tübingen

Tübingen, Germany

ACTIVE NOT RECRUITING

Department of Medical Genetics, University of Pecs

Pécs, Hungary

ACTIVE NOT RECRUITING

Department of Neurology, Zala County Hospital

Zalaegerszeg, Hungary

ACTIVE NOT RECRUITING

Fondazione-IRCCS Istituto Neurologico Carlo Besta

Milan, Italy

ACTIVE NOT RECRUITING

Department of Neuroscience, Federico II University Naples

Naples, Italy

ACTIVE NOT RECRUITING

Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour

Nijmegen, Netherlands

ACTIVE NOT RECRUITING

Institute of Psychiatry and Neurology

Warsaw, Poland

ACTIVE NOT RECRUITING

University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria

Santander, Spain

ACTIVE NOT RECRUITING

Institute of Neurology

London, United Kingdom

ACTIVE NOT RECRUITING

Related Publications (2)

  • 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.

  • 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.

Biospecimen

Retention: SAMPLES WITH DNA

DNA is obtained for genetic testing.

MeSH Terms

Conditions

Spinocerebellar Ataxias

Condition Hierarchy (Ancestors)

Cerebellar AtaxiaCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesSpinocerebellar DegenerationsSpinal Cord DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesAtaxiaDyskinesiasNeurologic ManifestationsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Thomas Klockgether, Prof. Dr.

CONTACT

Heike Jacobi, Dr.

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 1, 2015

First Posted

May 12, 2015

Study Start

July 1, 2005

Primary Completion (Estimated)

July 1, 2050

Study Completion (Estimated)

July 1, 2050

Last Updated

June 29, 2017

Record last verified: 2017-06

Locations