We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

The EUROSCA Natural History Study (EUROSCA-NHS)

This study is currently recruiting participants.
Verified June 2017 by Ataxia Study Group
Sponsor:
ClinicalTrials.gov Identifier:
NCT02440763
First Posted: May 12, 2015
Last Update Posted: June 29, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
Ataxia Study Group
  Purpose
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.

Condition
Spinocerebellar Ataxia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: The EUROSCA Natural History Study

Resource links provided by NLM:


Further study details as provided by Ataxia Study Group:

Primary Outcome Measures:
  • Scale for the assessment and rating of ataxia (SARA) [ Time Frame: 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. ]
    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.


Secondary Outcome Measures:
  • Disease stages [ Time Frame: 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. ]
    Disease stages are measured using the 5 point scale ranging from 0 to 4 proposed by Klockgether et al., 1998.

  • Inventory of non-ataxia signs (INAS) [ Time Frame: 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. ]
    The occurrence of accompanying non-ataxia symptoms is recorded using INAS. In the SARA validation trials, INAS was applied to a large number of SCA patients. Statistical evaluation showed good reliability.

  • UHDRS part IV [ Time Frame: 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. ]
    Functional disability in ADL is assessed using the Functional assessment part of the Unified Huntington's Disease Rating Scale (UHDRS) (Huntington Study Group, 1996). This 25-item assessment has been used in SCA patients throughout the SARA validation study with good practicality.

  • EQ-5D [ Time Frame: 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. ]
    Health related Quality of life is assessed using EQ-5D, a generic instrument that has been developed and validated by the EuroQuol Group (1990) and is available in validated translations for use as a questionnaire.

  • PHQ-9 [ Time Frame: 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. ]
    Assessment of depressive symptoms is done using a validated 9-item short form of the Patient Health Questionnaire (PHQ), a questionnaire that has been developed to screen for psychiatric co-morbidity in unselected populations (Spitzer et al. 1999).


Biospecimen Retention:   Samples With DNA
DNA is obtained for genetic testing.

Estimated Enrollment: 400
Study Start Date: July 2005
Estimated Study Completion Date: July 2050
Estimated Primary Completion Date: July 2050 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with spinocerebellar ataxia type 1,2,3 and 6.
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:

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02440763


Contacts
Contact: Thomas Klockgether, Prof. Dr. +4922828715736 thomas.klockgether@ukb.uni-bonn.de
Contact: Heike Jacobi, Dr. heike.jacobi@ukb.uni-bonn.de

Locations
Austria
Department of Neurology, Medical University, Innsbruck Active, not recruiting
Innsbruck, Austria
Belgium
Université Libre de Bruxelles (ULB), Neurology Service - ULB Hôpital Erasme, ULB Laboratory of Experimental Neurology Active, not recruiting
Brussels, Belgium
France
Hôpital de la Pitié-Salpêtrière, Département de Génétique Active, not recruiting
Paris, France
Germany
Department of Neurology, St. Josef Hospital, University Hospital of Bochum Active, not recruiting
Bochum, Germany
Department of Neurology, University of Bonn Recruiting
Bonn, Germany, 53105
Contact: Thomas Klockgether, Prof. Dr.       thomas.klockgether@ukb.uni-bonn.de   
Contact: Heike Jacobi, Dr.       heike.jacobi@ukb.uni-bonn.de   
Department of Neurology, University Clinic Essen, University of Duisburg-Essen Active, not recruiting
Essen, Germany
Department of Neurology, University of Frankfurt Active, not recruiting
Frankfurt, Germany
Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tübingen Active, not recruiting
Tübingen, Germany
Hungary
Department of Medical Genetics, University of Pecs Active, not recruiting
Pecs, Hungary
Department of Neurology, Zala County Hospital Active, not recruiting
Zalaegerszeg, Hungary
Italy
Fondazione-IRCCS Istituto Neurologico Carlo Besta Active, not recruiting
Milan, Italy
Department of Neuroscience, Federico II University Naples Active, not recruiting
Naples, Italy
Netherlands
Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour Active, not recruiting
Nijmegen, Netherlands
Poland
Institute of Psychiatry and Neurology Active, not recruiting
Warsaw, Poland
Spain
University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria Active, not recruiting
Santander, Spain
United Kingdom
Institute of Neurology Active, not recruiting
London, United Kingdom
Sponsors and Collaborators
Ataxia Study Group
  More Information

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Ataxia Study Group
ClinicalTrials.gov Identifier: NCT02440763     History of Changes
Other Study ID Numbers: 010/05
First Submitted: May 1, 2015
First Posted: May 12, 2015
Last Update Posted: June 29, 2017
Last Verified: June 2017

Keywords provided by Ataxia Study Group:
Natural History

Additional relevant MeSH terms:
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Cerebellar Ataxia
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Ataxia
Dyskinesias
Neurologic Manifestations
Genetic Diseases, Inborn