An observational study in Cerebellar Ataxias and Spastic Paraplegias, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Completed at 27 sites in 15 countries. Open to participants aged 2 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-02.
Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Observational
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.
72 studies on the registry are indexed under Cerebellar Ataxia; 16 are open to participants now.
This study's enrollment of 6,000 is above the median of 100 across 17 observational studies indexed under Cerebellar Ataxia.
Browse Cerebellar Ataxia studies →Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 378 studies on the registry; 81 are open to participants now.
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Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Characterize clinically the different forms of these diseases
Validation of a new quantitative tool with more sensitive grading scale of cerebellar syndrome, spasticity and their consequences. In one single device, three tests were assessed for hand coordination ( " tapping test ", " peg board test" and " click test "), one test for dysarthria and a final test to quantify walking disorders due to spasticity (distance covered in 5 seconds).
Time frame: Year 1 to Year 7
Elucidate the molecular bases of these diseases
To elucidate the molecular bases of these diseases (identify the loci/genes involved as well as those that modulate their expression) in order to enable the development of molecular diagnostics, the study of disease mechanisms, the identification of biomarkers and, subsequently, to propose new treatments.
Time frame: through study duration (through study duration (up to 14 years) )
Establish the natural history of spino-cerebellar degeneration
Investigators intended to follow the clinical status of this cohort of patients for 7 years, by assessing the progression of the pathology each year with a neurological exam
Time frame: Year 1 to Year 7
Ran from Feb 2004 to primary completion in Dec 2020, 202 months.
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From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is completed, as verified in Jan 2025. You cannot join it, but the record below documents what was studied.
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