Late Onset Sporadic Cerebellar Ataxia Clinical Trial
Official 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.
Progressive ataxia frequently starts in adults without a familial background. These patients
may suffer from an acquired ataxia or a genetically determined ataxia despite negative
family history. In the majority of them, however, a genetic or acquired cause of ataxia
cannot be identified suggesting a sporadic degenerative ataxia. They can be subdivided into
two groups. In one group, the underlying brain disease is multiple system atrophy (MSA),
specifically MSA of cerebellar type (MSA-C). The characteristic clinical feature of MSA is
the presence of severe autonomic failure defined by orthostatic hypotension or urinary
incontinence. The second group is distinguished from MSA-C by the lasting absence of severe
autonomic failure. These patients have been designated as sporadic adult onset ataxia of
unknown aetiology (SAOA). In the first years after ataxia onset, a distinction between MSA-C
and SAOA is often not possible.
There are only few studies comparing the phenotype of MSA-C and SAOA, and longitudinal
studies focussing on the evolution of the phenotype of these disorders are completely
lacking. In particular, the progression rate of SAOA compared to MSA-C has not been defined.
In addition, it is unknown which factors predict the development of MSA-C vs. SAOA, and at
which time after onset of ataxia, a reliable distinction between both disorders is possible.
To answer these questions, we plan to create a European registry of patients with sporadic
degenerative ataxia of adult onset and to perform a natural history study. 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.
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