NCT04288128

Integrated Functional Evaluation of the Cerebellum

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 40 (actual)
• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France · Other Government
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

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.

Detailed description

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

• Spinocerebellar Ataxia Type 2
• Spinocerebellar Ataxia Type 7

Interventions

Type	Name	Description
PROCEDURE	Lumbar puncture	Each participant will undergo lumbar puncture at first visit (M0) and last visit (M12)
OTHER	Magnetic Resonance Imaging (MRI)	Each participant will undergo scanning at 3 visits (M0, M6 and M12)

Timeline

• Start date: 2020-05-28
• Primary completion: 2022-05-20
• Completion: 2022-06-01
• First posted: 2020-02-28
• Last updated: 2025-11-18

Locations

1 site across 1 country: France