SPATAX: Clinical and Genetic Analysis 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.

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Key information

Conditions

Cerebellar Ataxias Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Ataxia Cerebellar Diseases Dyskinesias Nervous System Diseases Neurologic Manifestations Paralysis Paraplegia Pathological Conditions, Signs and Symptoms Signs and Symptoms Spastic Paraplegias

Age range

2 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Mustapha, Algiers, Algeria

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Progressive ataxia or paraplegia

Exclusion criteria

Lack of signed informed consent

Treatment and study plan

Primary outcomes

Characterize clinically the different forms of these diseases

Time frame: Year 1 to Year 7

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).
Elucidate the molecular bases of these diseases

Time frame: through study duration (through study duration (up to 14 years) )

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.
Establish the natural history of spino-cerebellar degeneration

Time frame: Year 1 to Year 7

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

Sponsors and collaborators

Lead sponsor

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

Other Gov

Collaborators

Institut des Maladies Rares
National Research Agency, France
Paris Brain Institute (ICM)

Registry information

Official study title

Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias

Acronym: Spatax

Important dates

Study start: 2004
Primary completion: 2020
Study completion: 2020
First posted: Sep 1, 2005
Registry last updated: Feb 4, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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