NCT04297891 - Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias | Biotech Hunter

Enrollment

250

Participants

Timeline

Start Date

September 1, 2020

Primary Completion Date

June 30, 2024

Study Completion Date

June 30, 2025

Conditions

Spastic Ataxia

Interventions

OTHER

Clinical rating scale to measure Ataxia disease severity and progression

SARA is a clinical scale developed by Schmitz-Hübsch et al which assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.

OTHER

Clinical rating scale to measure spastic paraplegia disease severity and progression

A 13-item scale to rate functional impairment occurring in pure forms of spastic paraplegia (SP). Additional symptoms constituting a complicated form of SP are recorded in an inventory.

OTHER

Disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

"The DSI-ARSACS is a valid measure of disease severity for the adult ARSACS population that is able to distinguish between patients with different clinical profiles.~It considers the 3 components (pyramidal, cerebellar, neuropathic) of the disease, and documents its content validity, internal consistency, and construct validity."

DIAGNOSTIC_TEST

Next-Gen Sequencing (NGS)

Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics

Trial Locations (9)

34010

RECRUITING

Koç Univ. Hospital, KUTTAMNDAL, Istanbul

45147

RECRUITING

University Hospital Essen (AöR), Essen

56128

RECRUITING

IRCCS Fondazione Stella Maris, Pisa

72076

RECRUITING

Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases, Tübingen

75013

RECRUITING

Département d'information médicale (DIM); Département de Biostatistique, Santn 3emé Publique et Information Médicale (BIOSPIM)- Bâtiment Mazarie étage; Hôpitaux Universitaires Pitié Salpêtrière, Paris

H3A 2B4

RECRUITING

Montreal Neurological Institute of McGill University, Department of Neurology and Neurosurgery and Human Genetics, Montreal

G7X 7X2

RECRUITING

Université de Sherbrooke, Saguenay

6525 GC

RECRUITING

Radboud University Medical Center; Department of Neurology & Donders Institute for Brain, Cognition, and Behaviour, Nijmegen

CB2 0PY

RECRUITING

Department of Clinical Neurosciences, University of Cambridge; John Van Geest Cambridge Centre for Brain Repair, Cambridge