Late Onset Sporadic Cerebellar AtaxiaSPORTAX-NHSNCT02701036
Sporadic Degenerative Ataxia With Adult Onset: Natural History Study
An observational study of Late Onset Sporadic Cerebellar Ataxia, run by Ataxia Study Group at 14 sites in 5 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 40 years and olderHealthy volunteers can take part
- Conditions the study is for
- Late Onset Sporadic Cerebellar Ataxia
- How many people
- 300 participants
- Where
- 14 sitesin 5 countries
- Study dates
- Apr 2010to Dec 2030
- How long will I take part?
- 20 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 40 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study population consists of patients with adult onset degenerative ataxia, in which acquired and genetic causes of ataxia have been excluded.
Who may be able to join
- 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)
Who cannot join
- 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;
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- 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
Trial locations and contacts
14 sites in 5 countries. Contact the study team or a site near you to ask about taking part.
14 sites in 5 countries
Germany9 sites, 8 recruiting
- Recruiting
Universitätsmedizin Berlin Charité
Berlin
Sarah Doss, MD, sarah.doss@charite.de
- Recruiting
Department of Neurology, University of Bonn
Bonn, 53105
Thomas Klockgether, Prof. Dr., thomas.klockgether@ukb.uni-bonn.de
Ilaria Giordano, MD, ilaria_anna.giordano@ukb.uni-bonn.de
- Recruiting
Department of Neurology, University Clinic Essen, University of Duisburg-Essen
Essen
Dagmar Timmann, MD, dagmar.timmann-braun@uni-duisburg-essen.de
Johanna Reinold, johanna.reinold@stud.uni-due.de
- Recruiting
Department of Neurology, University of Frankfurt
Frankfurt
Jun-Suk Kang, MD, jun-suk.kang@med.uni-frankfurt.de
- Active, not recruiting
Hamburg UKE Abt. Neuropädiatrie
Hamburg
- Recruiting
Otto-von-Guericke Universität Magdeburg
Magdeburg
Stefan Vielhaber, Prof. Dr., stefan.vielhaber@med.ovgu.de
- Recruiting
Friedrich-Baur-Institut an der Neurologischen Klinik
München
Thomas Klopstock, Prof. Dr., thomas.klopstock@med.uni-muenchen.de
- Recruiting
Universitätsmedidzin Rostock - Klinik und Poliklinik für Neurologie
Rostock
Cristoph Kamm, MD, christoph.kamm@med.uni-rostock.de
- Recruiting
Dept. of Neurodegenerative Diseases Tübingen
Tübingen
Ludger Schoels, Prof. Dr., ludger.schoels@dzne.de
Italy2 sites, 1 recruiting
- Recruiting
Department of Neuroscience, Federico II University Naples
Naples
Alessandro Filla, MD, afilla@unina.it
Antonella Antenora, antonella.antenora@virgilio.it
- Active, not recruiting
Universita cattolica del sacro cuore
Rome
Austria1 site
- Active, not recruiting
Department of Neurology, Medical University, Innsbruck
Innsbruck
Netherlands1 site
- Active, not recruiting
Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour
Nijmegen
Norway1 site, 1 recruiting
- Recruiting
Oslo University Hospital
Oslo
Chantal M.E. Tallaksen, MD, PhD, chantal.tallaksen@medisin.uio.no
About this study
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.
Read the detailed description
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.
- Conditions
- Late Onset Sporadic Cerebellar Ataxia
- Keywords
- sporadic ataxia, MSAc, SAOA, multiple system atrophy of cerebellar type, natural history
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| sporadic adult onset ataxia | SAOA denotes the non-hereditary degenerative adult-onset ataxia disorders that are distinct from multiple system atrophy (MSA). SAOA is a group of ataxia of unknown etiology characterized by a slowly progressive cerebellar syndrome starting around the age of 50 years. Possibly is accompanied by signs of mild autonomic dysfunction that do not meet the criteria of severe autonomic failure required for a diagnosis of MSA. | |
| cerebellar multiple system atrophy | Multiple system atrophy of cerebellar type is a cerebellar syndrome with sporadic onset developing in midlife, with autonomic features of otherwise unexplained bladder dysfunction with or without erectile dysfunction in males, orthostatic hypotension and atrophy of the cerebellum, brainstem, and middle cerebellar peduncles. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: through study completion, an average of 10 years
Secondary outcomes (8)
Inventory of non-ataxia signs (INAS)
The occurrence of accompanying non-ataxia symptoms is recorded using INAS.
Measured: through study completion, an average of 10 years
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.
Measured: through study completion, an average of 10 years
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.
Measured: through study completion, an average of 10 years
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.
Measured: through study completion, an average of 10 years
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.
Measured: through study completion, an average of 10 years
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
Measured: through study completion, an average of 10 years
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.
Measured: through study completion, an average of 10 years
RBDSQ
REM Behaviour Disorder Screening Questionnaire (RBDSQ)
Measured: through study completion, an average of 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Mar 2016 (estimated)
- Study startApr 2010
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Late Onset Sporadic Cerebellar AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- Ataxia Study Group
- Sponsor type
- University, hospital or other
- Collaborators
- German Center for Neurodegenerative Diseases (DZNE)
- Responsible party
- Principal investigator, Prof. Dr. Thomas Klockgether, Ataxia Study Group
- Investigators
- Thomas Klockgether, MD, Principal investigator, Department of Neurology, Bonn, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02701036
- Sponsor's protocol ID
- SPORTAX 010/05
- Acronym
- SPORTAX-NHS
- Status last verified
- Jun 2017
- First submitted
- 28 Jan 2016
- Last updated
- 29 Jun 2017
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Undecided
Publications
Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schols L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9.
PubMed 28794257