Sporadic Degenerative Ataxia With Adult Onset: Natural History Study

NCT02701036 | Recruiting DMC

• 1 other identifier: SPORTAX 010/05
• Study Type: observational
• Target: 300
• Locations: 5 countries
• Sites: 14

Brief 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. 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.

Conditions

Late Onset Sporadic Cerebellar Ataxia

Keywords

sporadic ataxia; MSAc; SAOA; multiple system atrophy of cerebellar type; natural history

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (8)

• Inventory of non-ataxia signs (INAS)

  through study completion, an average of 10 years

• spinocerebellar ataxia functional index (SCAFI)

  through study completion, an average of 10 years

• Unified Multiple System Atrophy Rating Scale (UMSARS)

  through study completion, an average of 10 years

• Questionnaire for Cerebellar Multisystem Atrophy diagnostic criteria

  through study completion, an average of 10 years

• EQ-5D

  through study completion, an average of 10 years

Study Arms (2)

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.

Eligibility Criteria

• Age: 40 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of patients with adult onset degenerative ataxia, in which acquired and genetic causes of ataxia have been excluded.

You may qualify if:

• 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)

You may not qualify if:

• No established acquired cause of ataxia
• 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
• 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
• 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;

Sponsors & Collaborators

• Ataxia Study Group: lead
• German Center for Neurodegenerative Diseases (DZNE): collaborator

Study Sites (14)

Department of Neurology, Medical University, Innsbruck

Innsbruck, Austria

ACTIVE NOT RECRUITING

Universitätsmedizin Berlin Charité

Berlin, Germany

RECRUITING

Department of Neurology, University of Bonn

Bonn, 53105, 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

Related Publications (1)

• 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.

  PMID: 28794257 DERIVED

Related Links

• Sportax Database

Biospecimen

Retention: SAMPLES WITH DNA

2x9 ml EDTA blood samples. Blood samples are taken according to established protocols for future genetic studies. The samples are sent to the Department of Medical Genetics (Tübingen, Germany).

Study Officials

• Thomas Klockgether, MD

  Department of Neurology, Bonn, Germany

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ilaria Anna Giordano, MD

CONTACT

0049 228 287 15750; ilaria_anna.giordano@ukb.uni-bonn.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr. Thomas Klockgether

Study Record Dates

• First Submitted: January 28, 2016
• First Posted: March 8, 2016
• Study Start: April 1, 2010
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: June 29, 2017

Record last verified: 2017-06

Locations

DE (9); AU (1); IT (2); NL (1); NO (1)