Natural history of sporadic degenerative ataxia in adults

Sporadic Degenerative Ataxia With Adult Onset: Natural History Study (SPORTAX-NHS)

This study is trying to see how two types of adult ataxia, MSA-C and SAOA, are different in terms of symptoms and progression in people over 40, while also collecting samples for future research.

Quick facts

• Study type: Observational
• Enrollment: 300 (estimated)
• Ages: 40 Years and up
• Sex: All
• Sponsor: Ataxia Study Group (Academic / other)
• Locations: 14 sites (Innsbruck and 13 other locations)
• Trial ID: NCT02701036 on ClinicalTrials.gov

What this trial studies

This study aims to compare the clinical features and progression rates of multiple system atrophy of cerebellar type (MSA-C) and sporadic adult onset ataxia of unknown aetiology (SAOA) in adults who develop ataxia after the age of 40. It will also investigate factors that may predict the development of MSA-C versus SAOA and determine when a reliable distinction between these disorders can be made. Additionally, blood samples and other biomaterials will be collected for future genetic and biomarker studies. The study will create a European registry for patients with sporadic degenerative ataxia to enhance understanding of these conditions.

Who should consider this trial

Good fit: Ideal candidates are adults over 40 years old with progressive ataxia and no family history of similar disorders.

Not a fit: Patients with established acquired causes of ataxia or those with rapid progression of symptoms may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with sporadic degenerative ataxia.

How similar studies have performed: There are few studies comparing MSA-C and SAOA, making this approach relatively novel and untested.

Eligibility criteria

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

Where this trial is running

Innsbruck and 13 other locations

• 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 — Nijmegen, Netherlands (Active_not_recruiting)
• Oslo University Hospital — Oslo, Norway (Recruiting)

Study contacts

• Principal investigator: Thomas Klockgether, MD — Department of Neurology, Bonn, Germany
• Study coordinator: Ilaria Anna Giordano, MD

Conditions Late Onset Sporadic Cerebellar Ataxia; sporadic ataxia; MSAc; SAOA; multiple system atrophy of cerebellar type; natural history