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

March 26, 2012 updated by: Institut National de la Santé Et de la Recherche Médicale, France

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.

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

6000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Algeria
      • Algiers, Algeria, 16000
        • Recruiting
        • CHU Mustapha
        • Contact:
        • Principal Investigator:
          • Miriem Tazir, MD, PhD
  • Belgium
      • Brussels, Belgium, 1070
        • Recruiting
        • Université Libre de Bruxelles - Hôpital Erasme
        • Contact:
        • Principal Investigator:
          • Massimo Pandolfo, MD, PhD
  • Denmark
      • Copenhagen, Denmark, 2200
        • Recruiting
        • The Panum Institute
        • Contact:
        • Principal Investigator:
          • Jorgen E Nielsen, MD, PhD
        • Sub-Investigator:
          • Kristin Husby Scheuer, MD
  • France
      • Angers, France, 49000
        • Recruiting
        • CHU d'Angers
        • Contact:
        • Principal Investigator:
          • Christophe Verny, MD
      • Bordeaux, France, 33000
        • Recruiting
        • Hôpital Pellegrin
        • Contact:
        • Principal Investigator:
          • Cyril Goizet, MD, PhD
      • Clermont-Ferrand, France, 63000
        • Recruiting
        • Hôpitaux de Clermont-Ferrand
        • Contact:
        • Principal Investigator:
          • Odile Boespflug-Tanguy, MD, PhD
      • Grenoble, France, 38000
      • Marseille, France, 13000
        • Recruiting
        • Hôpital de la Timone
        • Contact:
        • Principal Investigator:
          • Jean-Philippe Azulay, MD, PhD
        • Sub-Investigator:
          • Karine N'Guyen, MD
      • Nîmes, France, 30000
        • Recruiting
        • Hopital Caremeau
        • Contact:
        • Principal Investigator:
          • Pierre Labauge, MD, PhD
      • Paris, France, 75013
        • Recruiting
        • Pitie-Salpêtrière Hospital
        • Contact:
        • Sub-Investigator:
          • Alexis Brice, MD
        • Sub-Investigator:
          • Bertrand Fontaine, MD, PhD
      • Paris, France, 75012
        • Recruiting
        • Hôpital Armand Trousseau
        • Contact:
        • Principal Investigator:
          • Diana Rodriguez, MD
      • Rouen, France, 76000
        • Recruiting
        • Hopital Charles Nicolle
        • Contact:
        • Principal Investigator:
          • Didier Hannequin, MD, PhD
      • Toulouse, France, 31000
        • Recruiting
        • Hopital Purpan
        • Contact:
        • Principal Investigator:
          • Patrick Calvas, MD, PhD
  • Israel
      • Jerusalem, Israel, 91120
        • Recruiting
        • Hadassah-Hebrew University Hospital
  • Italy
      • Napoli, Italy, 80131
        • Recruiting
        • Dipartimento di Scienze Neurologiche
        • Contact:
          • Alessandro Filla, MD, PhD
          • Phone Number: 00390817462476
          • Email: afilla@unina.it
        • Principal Investigator:
          • Alessandro Filla, MD, PhD
      • Roma, Italy, 00165
        • Recruiting
        • Molecular Medicine and Department of Neurosciences
        • Contact:
          • Enrico Bertini, MD, PhD
          • Phone Number: 00390668592105
          • Email: ebertini@tin.it
        • Principal Investigator:
          • Enrico Bertini, MD, PhD
        • Sub-Investigator:
          • Filippo Santorelli, MD, PhD
  • Lebanon
      • Beirut, Lebanon, 1107 2180
        • Recruiting
        • Université Saint-Joseph
        • Contact:
        • Principal Investigator:
          • André Mégarbané, MD, PhD
  • Morocco
      • Rabat, Morocco
        • Recruiting
        • CHU de Rabat
        • Contact:
        • Principal Investigator:
          • Ali Benomar, MD, PhD
  • Netherlands
      • Nijmegen, Netherlands, 6500 HB
        • Recruiting
        • Radboud University Nijmegen Medical Centre
        • Contact:
        • Principal Investigator:
          • Berry Kremer, MD
  • Norway
      • Oslo, Norway, 407
        • Recruiting
        • Ullevål University Hospital
        • Contact:
        • Principal Investigator:
          • Chantal Tallaksen, MD, PhD
        • Sub-Investigator:
          • Jeanette Koht, MD
        • Sub-Investigator:
          • Anne Kjersti Erichsen, MD
  • Portugal
      • Porto, Portugal, 4150-180
        • Recruiting
        • University of Porto
        • Contact:
        • Principal Investigator:
          • Jorge Sequeiros, MD, PhD
      • Santa Maria de Feira, Portugal, 4520-211
        • Recruiting
        • Hospital San Sebastião
        • Contact:
        • Principal Investigator:
          • Paula Coutinho, MD, PhD
  • Saudi Arabia
      • Riyadh, Saudi Arabia, 11461
        • Recruiting
        • King Khalid University Hospital
        • Contact:
        • Principal Investigator:
          • Mustapha AM Salih, MD
  • Serbia
      • Belgrade, Serbia, 11000
        • Recruiting
        • Clinical Centre of Serbia
        • Contact:
          • Vladimir Kostic, MD
        • Principal Investigator:
          • Vladimir Kostic, MD
        • Sub-Investigator:
          • Vladana Spica, MD
        • Sub-Investigator:
          • Marina Svetel, MD
  • Tunisia
      • Sfax, Tunisia
        • Recruiting
        • Hôpital Habib Bourguiba
        • Contact:
        • Principal Investigator:
          • Chokri Mhiri, MD
        • Sub-Investigator:
          • Amir Boukhris, MD
        • Sub-Investigator:
          • Nizar Elleuch, MD
  • United Kingdom
      • London, United Kingdom, NW3 2PF
        • Recruiting
        • Royal Free and University College Medical School
        • Contact:
        • Principal Investigator:
          • Thomas T Warner, MD, PhD
      • London, United Kingdom, WC1N 3BG
        • Recruiting
        • The National Hospital
        • Contact:
        • Principal Investigator:
          • Nicholas W Wood, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 70 years (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

French population

Description

Inclusion Criteria:

  • Progressive ataxia or paraplegia

Exclusion Criteria:

  • Lack of signed informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Collaborators

National Research Agency, France
Institut des Maladies Rares

Investigators

  • 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: Diana Rodriguez, MD, Assistance Publique - Hôpitaux de Paris
  • Principal Investigator: Enrico Bertini, MD, Università de Roma
  • Principal Investigator: François Tison, MD, PhD, Hopitaux 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: Paula Coutinho, MD, PhD, Universidade do Porto
  • 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, Hopital Purpan
  • Principal Investigator: Berry Kremer, MD, Radboud University Medical Center
  • 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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2003

Study Completion (ANTICIPATED)

December 1, 2012

Study Registration Dates

First Submitted

August 25, 2005

First Submitted That Met QC Criteria

August 30, 2005

First Posted (ESTIMATE)

September 1, 2005

Study Record Updates

Last Update Posted (ESTIMATE)

March 27, 2012

Last Update Submitted That Met QC Criteria

March 26, 2012

Last Verified

March 1, 2012

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RBM01-29
  • DGS2005/003 (REGISTRY: N° DGS)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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