Natural history and biomarker identification in Spinocerebellar Ataxia type 1

Natural history and biomarker identification in Spinocerebellar Ataxia type 1 - SCA1

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON55272

Enrollment

Registered

2020-03-04

Start date

2020-09-03

Completion date

Unknown

Last updated

2026-05-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

ataxia disorder of coordination

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

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.

Design outcomes

Primary

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

Secondary

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

Measure

Time frame

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

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Countries

Netherlands

Outcome results