Resources

Ataxia clinics worldwide

The National Ataxia Foundation (NAF) provides the following lists of ataxia clinics on their website:

The European Reference Network for Rare Neurological Diseases (ERN-RND) provides the following list of ataxia centres in Europe which are members of the network (and have gone through a careful selection process prior to this):

SCA Clinical Research Initiatives

There are several clinical research initiatives in the field of spinocerebellar ataxias being carried out across the world. We list some of them below.

SCA Clinical Research Initiatives

CRC-SCA Natural History Study is an extension of the 2009-2012 NIH-funded study of the natural history of SCA1, SCA2, SCA3 and SCA3. Now with funding from the National Ataxia Foundation (NAF), a set of clinical data are collected for SCA1, SCA2, SCA3, SCA6, SCA7, SCA8 and SCA10 in a subset of READISCA sites in the U.S.. Biological samples collections will hopefully start soon.

European Spinocerebellar Ataxia Type 3/Machado Joseph Disease Initiative (ESMI) is a JPND-funded collaborative project that has the goal to increase trial readiness for SCA3. The ESMI consortium built up a large longitudinal cohort of SCA3 mutation carriers, both in the pre-ataxic and ataxic stage. A major focus of the ESMI project is the development of outcome biomarkers for interventional trials. The identified biomarker candidates include ataxin-3 in CSF and blood, neurofilaments in blood and MRI brain volumetry. More information can be found on the ESMI website here.

European Integrated Project on Spinocerebellar Ataxias (EUROSCA) is an EU-funded project with the aim of characterizing the natural history of SCA1, SCA2, SCA3 and SCA6. The EUROSCA investigators developed the Scale for the Assessment and Rating of Ataxia (SARA) which is widely used as the standard scale in clinical ataxia research. The EUROSCA cohort that comprises > 500 individuals was enrolled between 2005 and 2006 and has been followed for more than 10 years. It provides fundamental data on disease progression in these SCAs which are the basis for sample size calculations for clinical trials.
More information can be found on the EUROSCA website here.

READISCA is an NIH-funded 5-year transatlantic study to establish clinical trial readiness for SCA1 and SCA3 focusing on premanifest subjects and early-stage patients who have a high probability for favorable responses to disease-modifying treatments. This project aims to establish a large cohort of these subjects with collection of clinical data and biological samples (plasma, CSF and DNA), obtain MRI and MRS biomarkers of these subjects, and analyze these data in computer simulation to find suitable statistical designs of therapeutic interventions. The study is in Year 2 and will be completed in December 2022.
You can find more information on the READISCA website here.

RISCA is an E-Rare-funded project which aims to clinically characterize the pre-ataxia stage for SCA1, SCA2, SCA3 and SCA6. The RISCA cohort comprises > 300 at-risk individuals who were enrolled between 2008 and 2010 and followed for up to 8 years. Within the follow-up observational period approximately 50% of the SCA1, SCA2 and SCA3 mutation carriers converted to manifest ataxia.
More information can be found on the RISCA website here.

The SPATAX network , coordinated by Alexandra Durr and Giovanni Stevanin in Paris, France, combines the experience of clinicians and scientists working on cerebellar ataxias and spastic paraplegias. Over the past 2 decades, they have assembled the largest collection of families and achieved to elaborate an international clinical and genetic database, share biomaterials to participating laboratories, identify novel genes, perform preclinical and clinical trials. In addition to clinicians who play a major role in collecting family data (neurological exams, specific scores or scales, family trees,…), the group includes major laboratories devoted to the elucidation of the molecular basis of these disorders. Given the expertise of the participants, the researchers expect to identify novel causative genes, precise the spectrum of mutations, perform phenotype/genotype correlations and develop new therapeutic trials thanks to this unique series of patients with various phenotypes from many diverse countries around the world.  More information can be found on the SPATAX network's website here.
Contact:spatax@icm-institute.org

PAHAN is a new consortium on inherited ataxia focusing on, but not limited to, SCAs in American continents. The first meeting was held in Cuba and the second one is planned in Brazil. The PAHAN has worked together and prepared for the first publication which is ready for submission.