Integrated Functional Evaluation of the Cerebellum

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-05-28

Study Completion Date

2022-06-01

Brief Summary

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One of the main objectives of this project is to validate potential biological, clinical and/or imaging biomarkers in SCA patients through a multimodal assessment, for future ASOs trials.

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Detailed Description

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Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited neurological disorders, characterized by a predominant atrophy of the cerebellum and the brainstem. The most common forms are caused by abnormal CAG repeat expansions, encoding elongated polyglutamine (polyQ).

Nowadays, no preventive or curative treatments are available but different therapeutic approaches are ongoing. Antisense oligonucleotides (ASOs) therapy showed promising results in Huntington disease (HD), a disease that shares with the SCAs the same mutational mechanism. ASOs are currently under development for SCAs.

However, in SCAs, clinical scales as an only criteria to monitor a treatment are not appropriate because of the lack of sensitivity of change and the small number of patients available. The importance to dispose of outcome measures to inform about the efficacy of a treatment is fundamental as well as of new alternative designs to conduct a clinical trial in rare diseases with small sample sizes.

A comprehensive, multimodal approach is hence needed to provide a translational and integrated overview of cerebellar dysfunction in polyQ SCAs over a year.

Conditions

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Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 7

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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SCA early-manifest and premanifest patients

This cohort is defined by individuals with a SARA score between 0 and 15 (both values included).

Lumbar puncture

Intervention Type PROCEDURE

Each participant will undergo lumbar puncture at first visit (M0) and last visit (M12)

Magnetic Resonance Imaging (MRI)

Intervention Type OTHER

Each participant will undergo scanning at 3 visits (M0, M6 and M12)

Control participants

This cohort is defined by individuals with a SARA score less than 5 and no significant neurological symptoms.

Lumbar puncture

Intervention Type PROCEDURE

Each participant will undergo lumbar puncture at first visit (M0) and last visit (M12)

Magnetic Resonance Imaging (MRI)

Intervention Type OTHER

Each participant will undergo scanning at 3 visits (M0, M6 and M12)

Interventions

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Lumbar puncture

Each participant will undergo lumbar puncture at first visit (M0) and last visit (M12)

Intervention Type PROCEDURE

Magnetic Resonance Imaging (MRI)

Each participant will undergo scanning at 3 visits (M0, M6 and M12)

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Ability to walk independently 30 foot without an assistive device
* Able to stand unassisted for 30 seconds
* Affiliated with the French social security, or a social security equivalent, if they are not French.
* Capacity to consent
* Signed Informed Consent by the subject
* Ability to undergo MRI scanning

* Genetic diagnosis of SCA 2 or 7 (available CAG repeat length)
* SARA score ≤15

* Negative Genetic diagnosis of SCA2/SCA7 available
* No significant neurological symptoms
* SARA score \< 5

• Ability to undergo a lumbar puncture

Exclusion Criteria

* Subjects currently receiving, or having received within 2 months prior to enrolment into this study, any investigational drug
* Pregnancy or breastfeeding
* Genotype consistent with other inherited ataxias
* Changes in coordinative physical and occupational therapy for ataxia 2 months prior to study participation
* Concomitant disorder(s) or condition(s) that affects assessment of ataxia or severity of ataxia during this study
* Contra-indications to MRI examination
* Person deprived of their liberty by judicial or administrative decision

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes