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.
Eligibility
Sex
ALL
Min age
40 Years
Max age
—
Healthy volunteers
Accepted
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
Primary outcome measure(s)
Scale for the assessment and rating of ataxia (SARA) — through study completion, an average of 10 years 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.
Trial sites (14)
Facility
City
Region
Status
Department of Neurology, Medical University, Innsbruck
Innsbruck
Austria
Active Not Recruiting
Universitätsmedizin Berlin Charité
Berlin
Germany
Recruiting
Department of Neurology, University of Bonn
Bonn
Germany
Recruiting
Department of Neurology, University Clinic Essen, University of Duisburg-Essen
Essen
Germany
Recruiting
Department of Neurology, University of Frankfurt
Frankfurt
Germany
Recruiting
Hamburg UKE Abt. Neuropädiatrie
Hamburg
Germany
Active Not Recruiting
Otto-von-Guericke Universität Magdeburg
Magdeburg
Germany
Recruiting
Friedrich-Baur-Institut an der Neurologischen Klinik
München
Germany
Recruiting
Universitätsmedidzin Rostock - Klinik und Poliklinik für Neurologie
Rostock
Germany
Recruiting
Dept. of Neurodegenerative Diseases Tübingen
Tübingen
Germany
Recruiting
Department of Neuroscience, Federico II University Naples
Naples
Italy
Recruiting
Universita cattolica del sacro cuore
Rome
Italy
Active Not Recruiting
Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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