atural history and biomarker identification in Spinocerebellar Ataxia type 1

Recruiting

Conditions: ataxia
disorder of coordination
10029299
10028037

Registration Number: NL-OMON55272

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 70

Inclusion Criteria

• Participants have to be 16 years or older;
• Patients need to have a proven mutation in the SCA1 gene (patient cohort
only);
• Participant is able and willing to sign the informed consent.

Exclusion Criteria

A potential subject who meets any of the following criteria will be excluded
from participation in this study:
• Prior history of any neurological disorder, or another disease that
significantly influences gait;
• General contraindications for MRI.

For those participants who consider to consent for a lumbar puncture, the
following exclusion criteria, which will be checked prior to lumbar puncture,
apply:
• allergy to local anesthetic agents;
• medical history of compression of spinal cord, spinal surgery, skin
infection, developmental abnormalities in lower spine;
• use of blood coagulopathy and/or anticoagulant medication;
• clinical (or previous MRI) evidence of structural (space occupying) cerebral
abnormalities that are not compatible with the performance of an LP including
malignancies, abscess or obstructive hydrocephalus.
• Another brain disorder, besides SCA1.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main objective of this study is to identify (a combined set of) clinical<br /><br>and non-clinical markers most sensitive to disease progression in Dutch SCA1<br /><br>mutation carriers. In line with this objective, the main study endpoint is<br /><br>defined as:<br /><br><br /><br>• Annual change of validated clinical scales and patient-reported outcome<br /><br>measures that capture the relevant disease characteristics of SCA1.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>As we also want to explore the potential of novel biomarkers for disease<br /><br>progression in SCA1 mutation carriers, the following secondary endpoints are<br /><br>defined:<br /><br><br /><br>• Features extracted from automated speech analysis;<br /><br>• Structural MRI and MR spectroscopy parameters;<br /><br>• Disease protein ataxin-1 in CSF, with a to-be developed ataxin-1 assay using<br /><br>TR-FRET, as described for ataxin-3 (Nguyen et al., 2013);<br /><br>• Total tau, neurofilament light chain (NFL) and GFAP in CSF, tear fluid,<br /><br>and/or blood with assays operational in the CSF lab.<br /><br>• Features extracted from analysis of walk/balance performance performed<br /><br>with opal-sensors.</p><br>