Natural history and biomarker identification in Spinocerebellar Ataxia type 7

Natural history and biomarker identification in Spinocerebellar Ataxia type 7 - SCA7

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51803

Enrollment

Registered

2022-07-12

Start date

2022-10-13

Completion date

Unknown

Last updated

2026-08-03

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

16 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

Measure	Time frame
- To identify (a combined set of) clinical and non-clinical markers most sensitive to disease progression in Dtuch SCA7 mutation carriers.	—

Secondary

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

Measure

Time frame

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

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Countries

Netherlands

Outcome results