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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified March 2012 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was  Recruiting
Sponsor:
Collaborators:
Institut des Maladies Rares
National Research Agency, France
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT00140829
First received: August 25, 2005
Last updated: March 26, 2012
Last verified: March 2012
  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.


Condition Phase
Cerebellar Ataxias
Spastic Paraplegias
Phase 1

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

Resource links provided by NLM:


Further study details as provided by Institut National de la Santé Et de la Recherche Médicale, France:

Estimated Enrollment: 6000
Study Start Date: July 2003
Estimated Study Completion Date: December 2012
  Eligibility

Ages Eligible for Study:   2 Years to 70 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

French population

Criteria

Inclusion Criteria:

  • Progressive ataxia or paraplegia

Exclusion Criteria:

  • Lack of signed informed consent
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00140829

Contacts
Contact: Alexandra Dürr, MD, PhD 00331 57 27 46 82 alexandra.durr@upmc.fr

  Hide Study Locations
Locations
Algeria
CHU Mustapha Recruiting
Algiers, Algeria, 16000
Contact: Miriem Tazir, MD, PhD    0021321235640    meriemtazir@yahoo.com   
Principal Investigator: Miriem Tazir, MD, PhD         
Belgium
Université Libre de Bruxelles - Hôpital Erasme Recruiting
Brussels, Belgium, 1070
Contact: Massimo Pandolfo, MD, PhD       massimo.pandolfo@ulb.ac.be   
Principal Investigator: Massimo Pandolfo, 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
CHU d'Angers Recruiting
Angers, France, 49000
Contact: Christophe Verny, MD    003241354613    chverny@chu-angers.fr   
Principal Investigator: Christophe Verny, MD         
Hôpital Pellegrin Recruiting
Bordeaux, France, 33000
Contact: Cyril Goizet, MD, PhD       cyril.goizet@chu-bordeaux.fr   
Principal Investigator: Cyril Goizet, 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         
CHU Recruiting
Grenoble, France, 38000
Contact: Pierre Pollak, MD, PhD    0033476765791    pierre.pollak@ujf-grenoble.fr   
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         
Sub-Investigator: Karine N'Guyen, MD         
Hôpital Carémeau Recruiting
Nîmes, France, 30000
Contact: Pierre Labauge, MD, PhD    0033466683263    labauge@hotmail.com   
Principal Investigator: Pierre Labauge, MD, PhD         
Pitié-Salpêtrière Hospital Recruiting
Paris, France, 75013
Contact: Alexandra Dürr, MD, PhD    0033142162182    alexandra.durr@upmc.fr   
Principal Investigator: Alexandra Dürr, MD, PhD         
Sub-Investigator: Alexis Brice, MD         
Sub-Investigator: Bertrand Fontaine, MD, PhD         
Hôpital Armand Trousseau Recruiting
Paris, France, 75012
Contact: Diana Rodriguez, MD       diana.rodriguez@trs.aphp.fr   
Principal Investigator: Diana Rodriguez, MD         
Hôpital Charles Nicolle Recruiting
Rouen, France, 76000
Contact: Didier Hannequin, MD, PhD    0033232888170    Didier.hannequin@chu-rouen.fr   
Principal Investigator: Didier Hannequin, MD, PhD         
Hôpital Purpan Recruiting
Toulouse, France, 31000
Contact: Patrick Calvas, MD, PhD       calvas.p@chu-toulouse.fr   
Principal Investigator: Patrick Calvas, MD, PhD         
Israel
Hadassah-Hebrew University Hospital Recruiting
Jerusalem, Israel, 91120
Contact: Alexander Lossos, MD       ALOS@hadassah.org.il   
Principal Investigator: Alexander Lossos, MD         
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         
Sub-Investigator: Filippo Santorelli, 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         
Netherlands
Radboud University Nijmegen Medical Centre Recruiting
Nijmegen, Netherlands, 6500 HB
Contact: Berry Kremer, MD       h.kremer@neuro.umcn.nl   
Principal Investigator: Berry Kremer, MD         
Norway
Ullevål University Hospital Recruiting
Oslo, Norway, 407
Contact: Chantal ME Tallaksen, MD, PhD       Chantal.Tallaksen@ulleval.no   
Principal Investigator: Chantal Tallaksen, MD, PhD         
Sub-Investigator: Jeanette Koht, MD         
Sub-Investigator: Anne Kjersti Erichsen, MD         
Portugal
University of Porto Recruiting
Porto, Portugal, 4150-180
Contact: Jorge Sequeiros, MD, PhD       jsequeir@ibmc.up.pt   
Principal Investigator: Jorge Sequeiros, MD, PhD         
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 Salih, MD       mustapha@ksu.edu.sa   
Principal Investigator: Mustapha AM Salih, MD         
Serbia
Clinical Centre of Serbia Recruiting
Belgrade, Serbia, 11000
Contact: Vladimir Kostic, MD         
Principal Investigator: Vladimir Kostic, MD         
Sub-Investigator: Vladana Spica, MD         
Sub-Investigator: Marina Svetel, MD         
Tunisia
Hôpital Habib Bourguiba Recruiting
Sfax, Tunisia
Contact: Chokri Mhiri, MD       chokri.mhiri@rns.tn   
Principal Investigator: Chokri Mhiri, MD         
Sub-Investigator: Amir Boukhris, MD         
Sub-Investigator: Nizar Elleuch, 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       t.warner@medsch.ucl.ac.uk   
Principal Investigator: Thomas T Warner, MD, PhD         
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Institut des Maladies Rares
National Research Agency, France
Investigators
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
Paraplegia
Cerebellar Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Paralysis
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases

ClinicalTrials.gov processed this record on October 01, 2014