SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias (Spatax)
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Purpose
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.
| Study Type: | Observational |
| Study Design: | Observational Model: Family-Based Time Perspective: Prospective |
| Official Title: | Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias |
Eligibility| Ages Eligible for Study: | 2 Years to 70 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
French population
Inclusion Criteria:
- Progressive ataxia or paraplegia
Exclusion Criteria:
- Lack of signed informed consent
Contacts and Locations| Contact: Alexandra Dürr, MD, PhD | 00331 57 27 46 82 | alexandra.durr@upmc.fr |
Show 27 Study Locations| 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 |
More Information
Additional Information:
Publications:
| Responsible Party: | Institut National de la Santé Et de la Recherche Médicale, France |
| ClinicalTrials.gov Identifier: | NCT00140829 History of Changes |
| Other Study ID Numbers: | RBM01-29, DGS2005/003 |
| Study First Received: | August 25, 2005 |
| Last Updated: | March 26, 2012 |
| Health Authority: | France: Ministry of Health |
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:
|
Ataxia Cerebellar Ataxia Paraplegia Muscle Spasticity Dyskinesias Neurologic Manifestations Nervous System Diseases Signs and Symptoms |
Cerebellar Diseases Brain Diseases Central Nervous System Diseases Paralysis Muscular Diseases Musculoskeletal Diseases Muscle Hypertonia Neuromuscular Manifestations |
ClinicalTrials.gov processed this record on June 18, 2013