Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias

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.

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

Sponsors & Collaborators

• German Center for Neurodegenerative Diseases (DZNE)

  collaborator OTHER

• German Research Foundation

  collaborator OTHER

• Dr. Rebecca Schule

  lead OTHER

Principal Investigators

• Rebecca Schüle, PD Dr. · University Hospital Tübingen

• Matthis Synofzik, Prof., Dr. · University Hospital Tübingen

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2020-09-01

Primary Completion

2024-06-30

Completion

2025-06-30

Countries

• Canada
• France
• Germany
• Italy
• Netherlands
• Turkey (Türkiye)
• United Kingdom

Study Locations