Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias (SPAX-PBP)

  • STATUS
    Recruiting
  • End date
    Jun 29, 2025
  • participants needed
    250
  • sponsor
    Dr. Rebecca Schule
Updated on 29 May 2022
Investigator
Isabelle Côté, M.Sc.
Primary Contact
Université de Sherbrooke (6.3 mi away) Contact
+7 other location
Accepts healthy volunteers

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.

Description

The investigators will perform a registry-based standardized prospective Natural History Study (NHS) in SPAX and related disorders. Participants will be seen annually. At study visits a standardized clinical examination will be performed including application of clinical rating scales (selection of rating scales may vary depending on the individual phenotype and specific genotype); data will be entered into a clinical database (HSP Registry; https://www.hsp-registry.net and ARCA Registry; www.ARCA-registry.org). At all study visits, patients will be asked to donate biosamples; biomaterial collection is optional and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy.

Optionally, additional examinations may be performed including imaging, quantitative movement analysis, neuropsychological examinations, analysis of patient or observer reported outcomes and OMICS analysis to characterize molecular biomarkers.

In participants without a genetic diagnosis, next generation sequencing may be performed.

Thus this study will establish a model of disease progression and mechanistic evolution in SPAX, which will allow to track and understand selective as well as overlapping dysfunction of the cerebellum and corticospinal tract. In a transatlantic natural history study we will longitudinally validate clinician- and patient-reported, digital and molecular outcomes. In addition, we will improve on existing and develop new outcome parameters that show superior sensitivity to change. These include a novel clinical SPAX composite score, a smartphone mHealth toolbox combining remote assessment of daily living by wearable sensors with app-based patient-entered outcomes (SPAX.app), and multimodal MRI radiomics with an innovative machine learning approach for multisite MRI analysis, including in particular the infratentorial space. Longitudinal validation of targeted fluid biomarker candidates will aslo be an important part.

Details
Condition Spastic Ataxia
Treatment Next-Gen Sequencing (NGS), Clinical rating scale to measure Ataxia disease severity and progression, Clinical rating scale to measure spastic paraplegia disease severity and progression, Disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Clinical Study IdentifierNCT04297891
SponsorDr. Rebecca Schule
Last Modified on29 May 2022

Eligibility

Yes No Not Sure

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
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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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