Cerebellar AtaxiasSpataxNCT00140829
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
An observational study of Cerebellar Ataxias and Spastic Paraplegias, run by Institut National de la Santé Et de la Recherche Médicale, France at 27 sites in 15 countries.
Trial summary
Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity. Read more about this study
- Who is it for?
- Ages 2 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Cerebellar Ataxias, Spastic Paraplegias
- How many people
- 6,000 participants
- Where
- 27 sitesin 15 countries
- Study dates
- 10 Feb 2004to 30 Dec 2020
- 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 2 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: French population
Who may be able to join
- Progressive ataxia or paraplegia
Who cannot join
- Lack of signed informed consent
Trial locations and contacts
27 sites in 15 countries.
27 sites in 15 countries
France10 sites
CHU d'Angers
Angers, 49000
Hôpital Pellegrin
Bordeaux, 33000
Hôpitaux de Clermont-Ferrand
Clermont-Ferrand, 63000
CHU
Grenoble, 38000
Hôpital de la Timone
Marseille, 13000
Hôpital Carémeau
Nîmes, 30000
Hôpital Armand Trousseau
Paris, 75012
Pitié-Salpêtrière Hospital
Paris, 75013
Hôpital Charles Nicolle
Rouen, 76000
Hôpital Purpan
Toulouse, 31000
Italy2 sites
Dipartimento Di Scienze Neurologiche
Naples, 80131
Molecular Medicine and Department of Neurosciences
Roma, 00165
Portugal2 sites
University of Porto
Porto, 4150-180
Hospital San Sebastião
Santa Maria da Feira, 4520-211
United Kingdom2 sites
Royal Free and University College Medical School
London, NW3 2PF
The National Hospital
London, WC1N 3BG
Netherlands1 site
Radboud University Nijmegen Medical Centre
Nijmegen, 6500 HB
About this study
Official title: Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias
Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity. These progressive disorders are often severe and fatal, due to the absence of specific therapy. The SPATAX network combines the experience of European clinicians and scientists working on these groups of diseases. Over the past year, they have assembled the largest collection of families and achieved a number of tasks (initiation of a clinical and genetic database, distribution of DNA to participating laboratories, mapping of three new loci, and refinement of several loci). In addition to clinicians from Europe and Mediterranean countries, who play a major role in collecting families according to evaluation tools developed and validated by the SPATAX members, the group includes major European laboratories devoted to the elucidation of the molecular basis of these disorders. Each laboratory will centralize all families with a subtype of autosomal recessive (AR) CA (n=116) or SP (n=207) in order to efficiently map and identify the responsible gene(s). Genome-wide scans are already underway in 61 families. Given the expertise of the participants, the researchers expect to map and identify several genes during the course of this project. The spectrum of mutations and phenotype/genotype correlations will be analysed thanks to this unique series of patients with various phenotypes. The knowledge gained will be immediately applicable to patients in terms of improved positive diagnosis, follow-up and appropriate genetic counselling. In the long term, models for genetic entity will be developed in order to understand the pathophysiology and to identify new targets for treatment. The series of patients assembled and the precise knowledge of natural history will facilitate the implantation of therapeutic trials based on rational approaches.
- Conditions
- Cerebellar Ataxias, Spastic Paraplegias
- Keywords
- Cerebellar ataxias, Spastic paraplegias, Mutations spectrum, Linkage studies, Genetic counselling
- Medical subject headings
- Cerebellar Ataxia, Paraplegia
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterize clinically the different forms of these diseases
Validation of a new quantitative tool with more sensitive grading scale of cerebellar syndrome, spasticity and their consequences. In one single device, three tests were assessed for hand coordination ( " tapping test ", " peg board test" and " click test "), one test for dysarthria and a final test to quantify walking disorders due to spasticity (distance covered in 5 seconds).
Measured: Year 1 to Year 7
Elucidate the molecular bases of these diseases
To elucidate the molecular bases of these diseases (identify the loci/genes involved as well as those that modulate their expression) in order to enable the development of molecular diagnostics, the study of disease mechanisms, the identification of biomarkers and, subsequently, to propose new treatments.
Measured: through study duration (through study duration (up to 14 years) )
Establish the natural history of spino-cerebellar degeneration
Investigators intended to follow the clinical status of this cohort of patients for 7 years, by assessing the progression of the pathology each year with a neurological exam
Measured: Year 1 to Year 7
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Sep 2005 (estimated)
- Study start10 Feb 2004
- Primary completionDec 2020
- Study completion30 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (45)Papers the sponsor has linked to this study.
- Other trials for Cerebellar AtaxiasStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 6,000 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Collaborators
- Institut des Maladies Rares, National Research Agency, France, Paris Brain Institute (ICM)
- Responsible party
- Sponsor
- Investigators
- Alexandra Dürr, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de ParisAlessandro Filla, MD, PhD, Principal investigator, Federico II UniversityAndré Mégarbané, MD, Principal investigator, Université Saint-JosephAli Benomar, MD, PhD, Principal investigator, CHU de RabatChristophe Verny, MD, Principal investigator, University Hospital, AngersDidier Hannequin, MD, PhD, Principal investigator, Hôpitaux de RouenDiana Rodriguez, MD, Principal investigator, Assistance Publique - Hôpitaux de ParisEnrico Bertini, MD, Principal investigator, Università de Roma
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00140829
- Sponsor's protocol ID
- RBM01-29
- Other IDs
- DGS2005/003
- Acronym
- Spatax
- Status last verified
- Jan 2025
- First submitted
- 25 Aug 2005
- Last updated
- 2 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8.
PubMed 14770181Le Ber I, Bouslam N, Rivaud-Pechoux S, Guimaraes J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Durr A. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004 Apr;127(Pt 4):759-67. doi: 10.1093/brain/awh080. Epub 2004 Jan 21.
PubMed 14736755Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Said G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Durr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003 Dec;126(Pt 12):2761-72. doi: 10.1093/brain/awg283. Epub 2003 Sep 23.
PubMed 14506070Le Ber I, Camuzat A, Castelnovo G, Azulay JP, Genton P, Gastaut JL, Broglin D, Labauge P, Brice A, Durr A. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Arch Neurol. 2003 Aug;60(8):1097-9. doi: 10.1001/archneur.60.8.1097.
PubMed 12925365Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol. 2005 Apr;57(4):567-71. doi: 10.1002/ana.20416.
PubMed 15786464Durr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol. 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867.
PubMed 15596607Stevanin G, Durr A, Dussert C, Penet C, Brice A. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology. 2004 Sep 14;63(5):936. doi: 10.1212/01.wnl.0000137020.30604.1e. No abstract available.
PubMed 15365159Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol. 2004 Aug;61(8):1242-8. doi: 10.1001/archneur.61.8.1242.
PubMed 15313841Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Durr A, Brice A. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol. 2004 Jan;55(1):97-104. doi: 10.1002/ana.10798.
PubMed 14705117Tallaksen CM, Guichart-Gomez E, Verpillat P, Hahn-Barma V, Ruberg M, Fontaine B, Brice A, Dubois B, Durr A. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol. 2003 Aug;60(8):1113-8. doi: 10.1001/archneur.60.8.1113.
PubMed 12925368Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet. 2005 Jan 15;14(2):307-18. doi: 10.1093/hmg/ddi027. Epub 2004 Dec 1.
PubMed 15574463Stevanin G, Durr A, Benammar N, Brice A. Spinocerebellar ataxia with mental retardation (SCA13). Cerebellum. 2005;4(1):43-6. doi: 10.1080/14734220510007923.
PubMed 15895558Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. Spinocerebellar ataxia with sensory neuropathy (SCA25). Cerebellum. 2005;4(1):58-61. doi: 10.1080/14734220510007932.
PubMed 15895562Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schols L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wullner U, Brice A, Riess O, Stevanin G. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628.
PubMed 16193476Latouche M, Fragner P, Martin E, El Hachimi KH, Zander C, Sittler A, Ruberg M, Brice A, Stevanin G. Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity. Mol Cell Neurosci. 2006 Mar;31(3):438-45. doi: 10.1016/j.mcn.2005.10.013. Epub 2005 Dec 1.
PubMed 16325416