Home
Search
Study Topics
Glossary
|
|
|
|
|
|
Sponsors and Collaborators: |
Institut National de la Santé Et de la Recherche Médicale, France Institut des Maladies Rares |
---|---|
Information provided by: | Institut National de la Santé Et de la Recherche Médicale, France |
ClinicalTrials.gov Identifier: | NCT00140829 |
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: | Prospective |
Official Title: | Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias |
Ages Eligible for Study: | 2 Years to 70 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Inclusion Criteria:
Exclusion Criteria:
Contact: Alexandra Dürr, MD, PhD | 0033142162182 | durr@ccr.jussieu.fr |
Algeria | |
CHU Mustapha | Recruiting |
Algiers, Algeria, 16000 | |
Contact: Miriem Tazir, MD, PhD 0021321235640 meriemtazir@yahoo.com | |
Principal Investigator: Miriem Tazir, MD, PhD | |
Denmark | |
The Panum Institute | Recruiting |
Copenhagen, Denmark, 2200 | |
Contact: Jorgen E Nielsen, MD, PhD 004535527816 jnielsen@imbg.ku.dk | |
Principal Investigator: Jorgen E Nielsen, MD, PhD | |
Sub-Investigator: Kristin Husby Scheuer, MD | |
France | |
Pitié-Salpêtrière Hospital | Recruiting |
Paris, France, 75013 | |
Contact: Alexandra Dürr, MD, PhD 0033142162182 durr@ccr.jussieu.fr | |
Principal Investigator: Alexandra Dürr, MD, PhD | |
Sub-Investigator: Alexis Brice, MD | |
Sub-Investigator: Bertrand Fontaine, MD, PhD | |
CHU d'Angers | Recruiting |
Angers, France, 49000 | |
Contact: Christophe Verny, MD 003241354613 chverny@chu-angers.fr | |
Principal Investigator: Christophe Verny, MD | |
CHU | Recruiting |
Grenoble, France, 38000 | |
Contact: Pierre Pollak, MD, PhD 0033476765791 pierre.pollak@ujf-grenoble.fr | |
Hôpital Armand Trousseau | Recruiting |
Paris, France, 75012 | |
Contact: Diana Rodriguez, MD diana.rodriguez@trs.ap-hop-paris.fr | |
Principal Investigator: Diana Rodriguez, MD | |
Hôpital de la Timone | Recruiting |
Marseille, France, 13000 | |
Contact: Jean-Philippe Azulay, MD, PhD 0033491386579 jean-philippe.azulay@mail.ap-hm.fr | |
Principal Investigator: Jean-Philippe Azulay, MD, PhD | |
Hôpital Carémeau | Recruiting |
Nîmes, France, 30000 | |
Contact: Pierre Labauge, MD, PhD 0033466683263 labauge@hotmail.com | |
Principal Investigator: Pierre Labauge, MD, PhD | |
Hôpital Charles Nicolle | Recruiting |
Rouen, France, 76000 | |
Contact: Didier Hannequin, MD, PhD 0033232888170 Didier.hannequin@chu-rouen.fr | |
Principal Investigator: Didier Hannequin, MD, PhD | |
Hôpitaux de Clermont-Ferrand | Recruiting |
Clermont-Ferrand, France, 63000 | |
Contact: Odile Boespflug-Tanguy, MD, PhD 0033473448657 Odile.BOESPFLUG@inserm.u-clermont1.fr | |
Principal Investigator: Odile Boespflug-Tanguy, MD, PhD | |
Italy | |
Dipartimento Di Scienze Neurologiche | Recruiting |
Napoli, Italy, 80131 | |
Contact: Alessandro Filla, MD, PhD 00390817462476 afilla@unina.it | |
Principal Investigator: Alessandro Filla, MD, PhD | |
Molecular Medicine and Department of Neurosciences | Recruiting |
Roma, Italy, 00165 | |
Contact: Enrico Bertini, MD, PhD 00390668592105 ebertini@tin.it | |
Principal Investigator: Enrico Bertini, MD, PhD | |
Lebanon | |
Université Saint-Joseph | Recruiting |
Beirut, Lebanon, 1107 2180 | |
Contact: André Mégarbané, MD, PhD 009611614046 megarban@dm.net.lb | |
Principal Investigator: André Mégarbané, MD, PhD | |
Morocco | |
CHU de Rabat | Recruiting |
Rabat, Morocco | |
Contact: Ali Benomar, MD, PhD ali.benomar@hotmail.com | |
Principal Investigator: Ali Benomar, MD, PhD | |
Portugal | |
Hospital San Sebastião | Recruiting |
Santa Maria de Feira, Portugal, 4520-211 | |
Contact: Paula Coutinho, MD, PhD 00351256362847 pcoutinho@hospitalfeira.min-saude.pt | |
Principal Investigator: Paula Coutinho, MD, PhD | |
Saudi Arabia | |
King Khalid University Hospital | Recruiting |
Riyadh, Saudi Arabia, 11461 | |
Contact: Mustapha AM Dalih, MD mustapha@ksu.edu.sa | |
Principal Investigator: Mustapha AM Salih, MD | |
United Kingdom | |
The National Hospital | Recruiting |
London, United Kingdom, WC1N 3BG | |
Contact: Nicholas W Wood, MD, PhD 00442078373611 nwood@ion.ucl.ac.uk | |
Principal Investigator: Nicholas W Wood, MD, PhD | |
Royal Free and University College Medical School | Recruiting |
London, United Kingdom, NW3 2PF | |
Contact: Thomas T Warner, MD, PhD TWarner@rfc.ucl.ac.uk | |
Principal Investigator: Thomas T Warner, MD, PhD |
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 | CHU d'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 | University of 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 |
Study ID Numbers: | A02191DS |
Study First Received: | August 25, 2005 |
Last Updated: | October 16, 2007 |
ClinicalTrials.gov Identifier: | NCT00140829 |
Health Authority: | France: Ministry of Health |
Cerebellar ataxias Spastic paraplegias Mutations spectrum Linkage studies Genetic counselling |
Paraplegia Central Nervous System Diseases Brain Diseases Dyskinesias Paralysis Cerebellar Ataxia Signs and Symptoms Muscle Spasticity |
Muscular Diseases Musculoskeletal Diseases Muscle Hypertonia Ataxia Neurologic Manifestations Cerebellar Diseases Cerebellar ataxia |
Neuromuscular Manifestations Nervous System Diseases |