Late Onset Sporadic Cerebellar Ataxia Clinical Trial
— SPORTAX-NHSOfficial title:
Sporadic Degenerative Ataxia With Adult Onset: Natural History Study (SPORTAX-NHS)
The key goals of SPORTAX-NHS is to compare the phenotype of multiple system atrophy of
cerebellar type (MSA-C) and sporadic adult onset ataxia of unknown aetiology (SAOA) and to
determine the rate of disease progression in both groups including determination of the
factors that predict the development of MSA-C vs. SAOA, and at which time after onset of
ataxia, a reliable distinction between both disorders is possible.
The planned study will also allow to collect blood samples and other biomaterials from
patients with sporadic ataxia, which will be useful for future genetic and biomarker
studies.
| Status | Recruiting |
| Enrollment | 300 |
| Est. completion date | December 2030 |
| Est. primary completion date | December 2030 |
| Accepts healthy volunteers | Accepts Healthy Volunteers |
| Gender | All |
| Age group | 40 Years and older |
| Eligibility |
Inclusion Criteria: - Progressive ataxia - Disease onset after the age of 40 years - Informative and negative family history (no similar disorders in first- and second-degree relatives; parents older than 50 years, or, if not alive, age at death of more than 50 years, no consanguinity of parents) Exclusion Criteria: - No established acquired cause of ataxia Clinical exclusion criteria: - No onset of ataxia in association with stroke, encephalitis, sepsis, hyperthermia or heat stroke; - no chronic diarrhea; - no unexplained visual loss; - no alcohol abuse; - no chronic intake of anticonvulsant drugs; - no other toxic causes; no malignancies; - no rapid progression (development of severe ataxia in less than 12 weeks); - no insulin-dependent diabetes mellitus Imaging exclusion criteria: - No evidence of multiple sclerosis, ischemia, hemorrhage or tumor of the posterior fossa; - absence of signal abnormalities on T2/FLAIR-images except abnormalities compatible with MSA Laboratory exclusion criteria: - Negative molecular genetic testing for FRDA (only required if there is no cerebellar atrophy on MRI, SCA1, SCA2, SCA3, SCA6, FMR1 premutation (only required if prominent tremor, cognitive impairment and signal abnormality on T2/FLAIR images in the middle cerebellar peduncle); - antineuronal antibodies negative (only required, if disease duration less than 3 years); - normal levels of vitamin B12; - VDRL negative; - normal thyreoid function |
| Country | Name | City | State |
|---|---|---|---|
| Austria | Department of Neurology, Medical University, Innsbruck | Innsbruck | |
| Germany | Universitätsmedizin Berlin Charité | Berlin | |
| Germany | Department of Neurology, University of Bonn | Bonn | |
| Germany | Department of Neurology, University Clinic Essen, University of Duisburg-Essen | Essen | |
| Germany | Department of Neurology, University of Frankfurt | Frankfurt | |
| Germany | Hamburg UKE Abt. Neuropädiatrie | Hamburg | |
| Germany | Otto-von-Guericke Universität Magdeburg | Magdeburg | |
| Germany | Friedrich-Baur-Institut an der Neurologischen Klinik | München | |
| Germany | Universitätsmedidzin Rostock - Klinik und Poliklinik für Neurologie | Rostock | |
| Germany | Dept. of Neurodegenerative Diseases Tübingen | Tübingen | |
| Italy | Department of Neuroscience, Federico II University Naples | Naples | |
| Italy | Universita cattolica del sacro cuore | Rome | |
| Netherlands | Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour | Nijmegen | |
| Norway | Oslo University Hospital | Oslo |
| Lead Sponsor | Collaborator |
|---|---|
| Ataxia Study Group | German Center for Neurodegenerative Diseases (DZNE) |
Austria, Germany, Italy, Netherlands, Norway,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Scale for the assessment and rating of ataxia (SARA) | Both conditions (SAOA and MSAc) are part of neurodegenerative diseases, chronic progressive disorders. Their disease progression, can be measured using a 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. | through study completion, an average of 10 years | |
| Secondary | Inventory of non-ataxia signs (INAS) | The occurrence of accompanying non-ataxia symptoms is recorded using INAS. | through study completion, an average of 10 years | |
| Secondary | spinocerebellar ataxia functional index (SCAFI) | to assess the severity of ataxia in an objective way, three quantitative tests, 8m-walk, 9HPT (hole peg test) and PATA rate (timed speech task) are used. | through study completion, an average of 10 years | |
| Secondary | Unified Multiple System Atrophy Rating Scale (UMSARS) | UMSARS is a validated scale for multiple system atrophy used to assess additional symptoms typically occurring in MSA. The scale comprises the following components: Part I, historical, 12 items; Part II, motor examination, 14 items; Part III, autonomic examination; and Part IV, global disability scale. | through study completion, an average of 10 years | |
| Secondary | Questionnaire for Cerebellar Multisystem Atrophy diagnostic criteria | To distinguish between SAOA and MSAc adjusted criteria for multiple system atrophy of cerebellar type on the basis of consensus statement on the diagnostic criteria for MSAc are used (Second consensus statement on the diagnosis of multiple system atrophy: Neurology. 2008 Aug 26; 71(9): 670-676). Probable MSAc requires a sporadic, progressive adult-onset disorder including rigorously defined autonomic failure and cerebellar ataxia. Possible cerebellar MSA requires a sporadic, progressive adult-onset disease including cerebellar ataxia and at least one feature suggesting autonomic dysfunction plus one other feature that may be a clinical or a neuroimaging abnormality (Babinski sign with hyperreflexia, Stridor, Parkinsonism (bradykinesia and rigidity), Atrophy on MRI of putamen, middle cerebellar peduncle, or pons, Hypometabolism on FDG-PET in putamen, Presynaptic nigrostriatal dopaminergic denervation on SPECT or PET. If both criteria are not met patient is classified as a SAOA. |
through study completion, an average of 10 years | |
| Secondary | EQ-5D | 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. | through study completion, an average of 10 years | |
| Secondary | PHQ-9 | 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 | through study completion, an average of 10 years | |
| Secondary | Comparison of phenotype of cerebellar multiple system atrophy and sporadic adult onset ataxia of unknown etiology | classified as "SAOA" can convert into MSAc, that is why they are followed with yearly clinical assessments. | through study completion, an average of 10 years | |
| Secondary | RBDSQ | REM Behaviour Disorder Screening Questionnaire (RBDSQ) | through study completion, an average of 10 years |