atural history and biomarker identification in Spinocerebellar Ataxia type 7

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 40

Inclusion Criteria

- Participants have to be 16 years or older;
- Particpants need to have a proven mutation in the SCA7 gene (patient cohort
only);
- Participants is able and willing to sign the informed consent.

Exclusion Criteria

- Participant has prior history of any neurological disorder, or another
disease that significantly influences gait;
- Participant has any general contraindications for MRI

For participants who consider to consent for a lumbar puncture extra exclusion
criteria 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 SCA7

The following exclusion criteria are used to exclude research participants from
undergoing an ophthalmological assessment:
Being diagnosed with (or with a combination of):
- Clinical manifest glaucoma
- Diabetic maculopathy
- Moderate non-proliferative diabetic retinopathy or worse
- Age-related macular degeneration
- Retinal degeneration besides SCA-7 related
Having a history of:
- Retinal detachment surgery
- Ocular trauma involving the posterior segment

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- To identify (a combined set of) clinical and non-clinical markers most<br /><br>sensitive to disease progression in Dtuch SCA7 mutation carriers.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- To quantify the annual change in disease-relevant clinical scales and<br />patient-reported outcome measures in SCA7 patients.<br />- To establish the utility of ophthalmologic assessment analysis as a surrogate<br />biomarker in SCA7.<br />- To establish the utility of MR measures as surrogate disease progression<br />markers in SCA7.<br />- To develop and establish the utility of biochemical disease and progression<br />markers.<br />- To establish the utility of automated gait analysis as surrogate biomarker in<br />SCA7.<br />- To generate a natural history data set of clinical parameters, MRI,<br />ophthalmologic, and biochemical biomarker measurements in SCA7 that can be<br />exploited for further collaborative research in SCA7.</p>