Integrated Functional Evaluation of the Cerebellum — CERMOI  

Spinocerebellar Ataxia Type 2 Clinical Trial

Official title: Integrated Functional Evaluation of the Cerebellum

Status Completed

Clinical Trial 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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Spinocerebellar Ataxia Type 2
• Spinocerebellar Ataxia Type 7
• Spinocerebellar Ataxias
• Spinocerebellar Degenerations

• NCT number: NCT04288128
• Study type: Observational
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Status: Completed
• Start date: May 28, 2020
• Completion date: June 1, 2022