Spastic Ataxia Clinical Trial
— SPAX-PBPOfficial title:
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
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.
Status | Recruiting |
Enrollment | 250 |
Est. completion date | June 2025 |
Est. primary completion date | June 2024 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - 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 Exclusion Criteria: - Missing informed consent - For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent |
Country | Name | City | State |
---|---|---|---|
Canada | Montreal Neurological Institute of McGill University, Department of Neurology and Neurosurgery and Human Genetics | Montreal, | Quebec |
Canada | Université de Sherbrooke | Saguenay | Quebec |
France | Département d'information médicale (DIM); Département de Biostatistique, Santn 3emé Publique et Information Médicale (BIOSPIM)- Bâtiment Mazarie étage; Hôpitaux Universitaires Pitié Salpêtrière | Paris | |
Germany | University Hospital Essen (AöR) | Essen | |
Germany | Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases | Tübingen | Baden-Württemberg |
Italy | IRCCS Fondazione Stella Maris | Pisa | |
Netherlands | Radboud University Medical Center; Department of Neurology & Donders Institute for Brain, Cognition, and Behaviour | Nijmegen | |
Turkey | Koç Univ. Hospital, KUTTAMNDAL | Istanbul | |
United Kingdom | Department of Clinical Neurosciences, University of Cambridge; John Van Geest Cambridge Centre for Brain Repair | Cambridge |
Lead Sponsor | Collaborator |
---|---|
Dr. Rebecca Schule | German Center for Neurodegenerative Diseases (DZNE), German Research Foundation |
Canada, France, Germany, Italy, Netherlands, Turkey, United Kingdom,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Change of the Patient-Reported Outcomes Measurement Information System (PROMIS) short form "physical function" 12a from baseline to 2-year follow-up | Self-report questionnaire comprising 12 questions. All PROMIS scores are standardized (item-level calibration) and expressed as T-scores with a population mean of 50 and a Standard Deviation (SD) of 10. Higher T-scores hereby indicate a higher physical function level. | 24 months | |
Other | Change of the Patient-Reported Outcomes Measurement Information System (PROMIS) short form "social roles and activities" 8a from baseline to 2-year follow-up | Self-report questionnaire comprising 8 questions. All PROMIS scores are standardized (item-level calibration) and expressed as T-scores with a population mean of 50 and a Standard Deviation (SD) of 10. Higher T-scores hereby indicate a higher degree of social participation. | 24 months | |
Primary | Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up | Severity of the ataxia component of the disease will be assessed by application of the Scale for the Assessment and Rating of Ataxia (SARA). The total score is calculated as the sum of al items, yielding a total score between 0 and 38. Hereby, higher SARA scores indicate more severe disease. | 24 months | |
Primary | Change of Spastic Paraplegia Rating Scale (SPRS) from baseline to 2-year follow-up | Severity of the spasticity component of the disease will be assessed by application of the Spastic Paraplegia Rating Scale. The total score is calculated as the sum of al items, yielding a total score between 0 and 52. Hereby, higher SPRS scores indicate more severe disease. | 24 months | |
Secondary | Change of Disease severity index - Autosomal recessive spastic ataxia of Charlevoix-Saguenay(DSI-ARSACS) from baseline to 2-year follow-up | The DSI-ARSACS is a clinical rating scale consisting of 8 items reflecting the 3 main components of the disease (pyramidal, cerebellar, and neuropath systems) specifically developed to measure disease progression in ARSACs. The DSI-ARSACS total score can range from 0 to 38. Hereby, higher DSI-ARSACS scores indicate more severe disease. | 24 months |
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT01793168 -
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
|