Spinocerebellar Ataxia
Conditions
Keywords
Natural History
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.
Interventions
None listed
Sponsors
Ataxia Study Group
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Scale for the assessment and rating of ataxia (SARA) | 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
| Measure | Time frame | Description |
|---|---|---|
| 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. | 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) | 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 | 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 | 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 | 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). |
Countries
Austria, Belgium, France, Germany, Hungary, Italy, Netherlands, Poland, Spain, United Kingdom
Contacts
Primary ContactThomas Klockgether, Prof. Dr.
Backup ContactHeike Jacobi, Dr.
Outcome results
None listed