SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias (Spatax)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00140829
Recruitment Status : Unknown
Verified March 2012 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was:  Recruiting
First Posted : September 1, 2005
Last Update Posted : March 27, 2012
Institut des Maladies Rares
National Research Agency, France
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

Brief 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. 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.

Condition or disease
Cerebellar Ataxias Spastic Paraplegias

Study Type : Observational
Estimated Enrollment : 6000 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias
Study Start Date : July 2003
Estimated Study Completion Date : December 2012

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
French population

Inclusion Criteria:

  • Progressive ataxia or paraplegia

Exclusion Criteria:

  • Lack of signed informed consent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00140829

Contact: Alexandra Dürr, MD, PhD 00331 57 27 46 82

  Show 27 Study Locations
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Institut des Maladies Rares
National Research Agency, France
Principal Investigator: Alexandra Dürr, MD, PhD Assistance Publique - Hôpitaux de Paris
Principal Investigator: Alessandro Filla, MD, PhD Federico II University
Principal Investigator: André Mégarbané, MD Université Saint-Joseph
Principal Investigator: Ali Benomar, MD, PhD CHU de Rabat
Principal Investigator: Christophe Verny, MD University Hospital, Angers
Principal Investigator: Didier Hannequin, MD, PhD Hôpitaux de Rouen
Principal Investigator: Diana Rodriguez, MD Assistance Publique - Hôpitaux de Paris
Principal Investigator: Enrico Bertini, MD Università de Roma
Principal Investigator: François Tison, MD, PhD Hôpitaux de Bordeaux
Principal Investigator: Jorgen E Nielsen, MD, PhD The Panum Institute
Principal Investigator: Mustapha Salih, MD College of Medicine and KKUH
Principal Investigator: Miriem Tazir, MD, PhD Université d'Alger
Principal Investigator: Nicholas W Wood, MD, PhD Institute of Neurology
Principal Investigator: Odile Boespflug-Tanguy, MD, PhD Hôpitaux de Clermont-Ferrand
Principal Investigator: Jean-Philippe Azulay, MD, PhD Assistance Publique - Hôpitaux de Marseille
Principal Investigator: Paula Coutinho, MD, PhD Universidade do Porto
Principal Investigator: Pierre Labauge, MD, PhD Hôpitaux de Nîmes
Principal Investigator: Pierre Pollak, MD, PhD Hôpitaux de Grenoble
Principal Investigator: Thomas T Warner, MD, PhD University College, London
Principal Investigator: Alexander Lossos, MD Hadassah-Hebrew University Hospital
Principal Investigator: Cyril Goizet, MD, PhD Hôpital Pellegrin
Principal Investigator: Patrick Calvas, MD, PhD Hôpital Purpan
Principal Investigator: Berry Kremer, MD Radboud University
Principal Investigator: Vladimir Kostic, MD Clinical Centre of Serbia
Principal Investigator: Chokri Mhiri, MD Hôpital Habib Bourguiba
Principal Investigator: Massimo Pandolfo, MD, PhD Université Libre de Bruxelles - Hôpital Erasme
Principal Investigator: Jorge Sequeiros, MD, PhD Universidade do Porto
Principal Investigator: Chantal ME Tallaksen, MD, PhD Ullevaal University Hospital

Additional Information:
Publications of Results:
Ribaï P, Stevanin G, Trefouret S, Nelson I, Soumphonphakdy C, Pouget J, Dürr A, Brice A. Extension of the SPG26 phenotype in a Spanish family and refinement of its locus on chromosome 12. Eletter, Journal of Medical Genetics 42(1):80-82, 2005.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945.

Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France Identifier: NCT00140829     History of Changes
Other Study ID Numbers: RBM01-29
DGS2005/003 ( Registry Identifier: N° DGS )
First Posted: September 1, 2005    Key Record Dates
Last Update Posted: March 27, 2012
Last Verified: March 2012

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Cerebellar ataxias
Spastic paraplegias
Mutations spectrum
Linkage studies
Genetic counselling

Additional relevant MeSH terms:
Cerebellar Ataxia
Muscle Spasticity
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Muscular Diseases
Musculoskeletal Diseases
Muscle Hypertonia
Neuromuscular Manifestations