Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
Status: Recruiting
Location: See all (9) locations...
Intervention Type: Other, Diagnostic Test
Study Type: Observational [Patient Registry]
SUMMARY
The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: Accepts Healthy Volunteers
View:
• ARSACS cohort: genetic diagnosis of ARSACS and clinically manifest disease
• SPG7 cohort: genetic diagnosis of SPG7 and clinically manifest disease
• Unrelated healthy controls: no signs or history of neurological or psychiatric disease
• AND
• written informed consent provided
• AND
• Participants are willing and able to comply with study procedures
Locations
Other Locations
Canada
Montreal Neurological Institute of McGill University, Department of Neurology and Neurosurgery and Human Genetics
Recruiting
Montreal,
Université de Sherbrooke
Recruiting
Saguenay
France
Département d'information médicale (DIM); Département de Biostatistique, Santn 3emé Publique et Information Médicale (BIOSPIM)- Bâtiment Mazarie étage; Hôpitaux Universitaires Pitié Salpêtrière
Recruiting
Paris
Germany
University Hospital Essen (AöR)
Recruiting
Essen
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Recruiting
Tübingen
Italy
IRCCS Fondazione Stella Maris
Recruiting
Pisa
Netherlands
Radboud University Medical Center; Department of Neurology & Donders Institute for Brain, Cognition, and Behaviour
Recruiting
Nijmegen
Turkey
Koç Univ. Hospital, KUTTAMNDAL
Recruiting
Istanbul
United Kingdom
Department of Clinical Neurosciences, University of Cambridge; John Van Geest Cambridge Centre for Brain Repair
Recruiting
Cambridge
Contact Information
Primary
Rebecca Schüle, PD Dr.
rebecca.schuele-freyer@uni-tuebingen.de
+49 7071 29
Backup
Matthis Synofzik, Prof., Dr.
matthis.synofzik@uni-tuebingen.de
+49 7071 29
Time Frame
Start Date: September 1, 2020
Estimated Completion Date: June 2025
Participants
Target number of participants: 250
Treatments
ARSACS
Participants with genetically confirmed ARSACS (ORPHA:98) will be recruited. Target sample size for the ARSACS cohort is 120.
SPG7
Participants with genetically confirmed SPG7 (ORPHA:99013) will be recruited. Target sample size for the SPG7 cohort is 72.
Unrelated healthy control
Unrelated healthy controls Healthy controls may undergo the same study procedures as the ARSACS and SPG7 cohort. Target sample size for the control cohort is 50.
Authors
Related Therapeutic Areas
Sponsors
Collaborators: German Research Foundation, German Center for Neurodegenerative Diseases (DZNE)
Leads: Dr. Rebecca Schule