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Brain scan and spinal tap study aims to speed up ataxia drug trials

NCT ID NCT04288128

Knowledge-focused Sponsor: Institut National de la Santé Et de la Recherche Médicale, France Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This completed study looked at 40 people with spinocerebellar ataxia types 2 and 7, a rare brain disease that affects movement. Researchers used MRI scans and lumbar punctures over one year to track changes in the brain and body. The goal was to find reliable markers that could be used in future trials of experimental gene-targeting drugs.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could identify reliable markers to speed up testing of new treatments for spinocerebellar ataxia.
What could go wrong
This is an observational study, not a treatment trial. It may not find clear markers, and any findings will need confirmation in larger studies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

40 people

The number who actually took part.

Started

May 2020

Finished

Jun 2022

Lead sponsor

A government agency

The lead sponsor is a government body.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

1. Early stage subjects and premanifest mutation carriers refer to individuals who tested positive for the SCA 2 or 7 gene mutation and SARA score between 0 and 15 (both values included) 2. Control participants refer to individuals with non-mutation carriers.

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Common inclusion criteria for all participants: * 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 Inclusion criteria for SCA patients: * Genetic diagnosis of SCA 2 or 7 (available CAG repeat length) * SARA score ≤15 Inclusion criteria for control participants: * Negative Genetic diagnosis of SCA2/SCA7 available * No significant neurological symptoms * SARA score \< 5 Common inclusion criteria for elective participant for CSF sampling: • 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

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Conditions

The condition(s) this trial relates to.

spinocerebellar ataxia 7 spinocerebellar ataxia type 2 Spinocerebellar Ataxias

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 7

Contacts and locations

Locations

  • Institut du Cerveau - Paris Brain Institute

    Paris, 75013, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.