Spinocerebellar Ataxia Type 2CERMOINCT04288128
Integrated Functional Evaluation of the Cerebellum
An observational study of Spinocerebellar Ataxia Type 2 and Spinocerebellar Ataxia Type 7, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 7
- What is being tested?
- Lumbar puncture and Magnetic Resonance Imaging (MRI)
- Type of treatment
- Surgery or procedure
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 28 May 2020to 1 Jun 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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.
Who may be able to join
- 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
- Common inclusion criteria for elective participant for CSF sampling:
- Ability to undergo a lumbar puncture
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Being tested
- Lumbar puncture, Magnetic Resonance Imaging (MRI)
- Keywords
- Spinocerebellar ataxia, Multimodal approach, Biomarker, Antisense oligonucleotides (ASOs) therapy
- Medical subject headings
- Spinocerebellar Ataxias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Lumbar punctureProcedure or surgery
Each participant will undergo lumbar puncture at first visit (M0) and last visit (M12)
Magnetic Resonance Imaging (MRI)Other
Each participant will undergo scanning at 3 visits (M0, M6 and M12)
| Study group | Role | What they receive |
|---|---|---|
| SCA early-manifest and premanifest patients | This cohort is defined by individuals with a SARA score between 0 and 15 (both values included). Receives: Procedure: Lumbar puncture; Other: Magnetic Resonance Imaging (MRI) | |
| Control participants | This cohort is defined by individuals with a SARA score less than 5 and no significant neurological symptoms. Receives: Procedure: Lumbar puncture; Other: Magnetic Resonance Imaging (MRI) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of biological, clinical and/or imaging biomarkers in SCA2 and SCA7 patients mutations carriers and patients through a multimodal assessment over one year to prepare therapeutic trials
Measured: Over one year
Secondary outcomes (17)
To determine the cross-sectional and longitudinal variability of SARA (Scale for the Assessment and Rating of Ataxia) and CCFS (Composite Cerebellar Functional Score) scores in SCA 2 and SCA 7 gene mutation carriers and healthy controls over one
Measured: Over one year
Determine the cross-sectional and longitudinal variability of volumetric MRI and NMR-proto spectroscopy in SCA 2 and SCA 7 gene mutation carriers and healthy controls
Measured: Over one year
Delineate a specific pattern of frontal-like cognitive deficit in SCAs gene carriers
Evolution of neuropsychological scores and Cerebellar Cognitive Affective/Schmahmann Syndrome Scale. The neuropsychological data collected has to evaluate the cerebellar cognitive affective syndrome (CCAS). The CCAS consisting of cognitive and affective deficits due to cerebellar disease.
Measured: Over one year
To determine the cross-sectional and longitudinal variability of CSF, blood and urine biomarkers in SCAs gene mutation carriers and controls
eg. specific mutant protein dosage in CSF sample for each genotype over 1 year, if available
Measured: Over one year
To explore the relationship of CSF, blood and urine biomarker levels in relation to clinical and imaging markers of disease progression
Measured: Over one year
To assess the feedback of individuals for the disease (Most bothersome symptoms)
Evolution of a Most Bothersome Symptom (MBS) questionnaire will be performed by the physician in order to determine patients' most bothersome symptoms. This qualitative report investigating the subjective complaint and feedback of patients
Measured: Over one year
To assess the feedback of individuals for the disease thanks to quality of life questionnaires
Evolution of quality of life self-administrated questionnaires :
Patient global impression: is a global index that may be used to rate the response of a condition EQ-5D is a standardized instrument which measures health-related quality of life that can be used in a wide range of health conditions and treatments Patient Health Questionnaire (PHQ 9) is a self-administered depression module, which scores each of the nine DSM-IV criteria as "0" (not at all) to "3" (nearly every day).
Measured: Over one year
To determine the cross-sectional and longitudinal variability of quantitative measures of postural stability, free walking and turning in SCA 2 and SCA 7 mutation carriers and healthy controls
Evolution of postural sway measures from the sternum and the lumbar spine by wearable APDM® sensors and evolution of cerebellar instability by Fitbit® smartwatch
Measured: Over one year
To determine the cross-sectional and longitudinal variability of quantitative measures of oculomotor recording in SCA 2 and SCA 7 gene mutations carriers and healthy controls.
Measured: Over one year
To determine the cross-sectional and longitudinal variability of optical coherence tomography in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
To determine the cross-sectional and longitudinal variability of adaptative optics in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
To determine the cross-sectional and longitudinal variability of autofluorescence, visual acuity, in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
To determine the cross-sectional and longitudinal variability of visual field in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
To determine the cross-sectional and longitudinal variability of colour contrast sensitivity in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
To determine the cross-sectional and longitudinal variability of electroretinogram in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
To determine the cross-sectional and longitudinal variability of static perimetry in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
To determine the cross-sectional and longitudinal variability of visual evoked potential in SCA 2 and SCA 7 gene mutations carriers
Measured: Over one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2020
- Study start28 May 2020
- Primary completion20 May 2022
- Study completion1 Jun 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Spinocerebellar Ataxia Type 2Studies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Collaborators
- Biogen, Ionis Pharmaceuticals, Inc.
- Responsible party
- Sponsor
- Investigators
- Alexandra DURR, Principal investigator, Institut du Cerveau - Paris Brain Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04288128
- Sponsor's protocol ID
- C18-29
- Other IDs
- 2018-A02563-52
- Acronym
- CERMOI
- Status last verified
- Jan 2025
- First submitted
- 17 Feb 2020
- Last updated
- 18 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Coarelli G, Dubec-Fleury C, Petit E, Sayah S, Fischer C, Nassisi M, Gatignol P, Dorgham K, Daghsen L, Daye P, Cunha P, Kacher R, Hilab R, Hurmic H, Lamaziere A, Lamy JC, Welter ML, Chupin M, Mangin JF, Lane R, Gaymard B, Pouget P, Audo I, Brice A, Tezenas du Montcel S, Durr A. Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers. Neurology. 2024 Sep 10;103(5):e209749. doi: 10.1212/WNL.0000000000209749. Epub 2024 Aug 12.
PubMed 39133883Nassisi M, Coarelli G, Blanchard B, Dubec-Fleury C, Drine K, Kitic N, Sancho S, Hilab R, Tezenas du Montcel S, Junge C, Lane R, Arnold HM, Durr A, Audo I. ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study. JAMA Ophthalmol. 2024 Apr 1;142(4):301-308. doi: 10.1001/jamaophthalmol.2024.0001.
PubMed 38421662Seemann J, Daghsen L, Cazier M, Lamy JC, Welter ML, Giese MA, Synofzik M, Durr A, Ilg W, Coarelli G. Digital Gait Measures Capture 1-Year Progression in Early-Stage Spinocerebellar Ataxia Type 2. Mov Disord. 2024 May;39(5):788-797. doi: 10.1002/mds.29757. Epub 2024 Feb 28.
PubMed 38419144
Study at a glance
From the registry record, last updated by the sponsor on 18 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Integrated Functional Evaluation of the Cerebellum
- ClinicalTrials.gov ID
- NCT04288128
- Acronym / sponsor ID
- CERMOI / C18-29
- Keywords
- Spinocerebellar ataxia, Multimodal approach, Biomarker, Antisense oligonucleotides (ASOs) therapy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Collaborators
- Biogen, Ionis Pharmaceuticals, Inc.
- Study start
- 28 May 2020 (actual)
- Primary completion
- 20 May 2022 (actual)
- Study completion
- 1 Jun 2022 (actual)
- First posted
- 28 Feb 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| SCA early-manifest and premanifest patients | – | Procedure: Lumbar puncture, Other: Magnetic Resonance Imaging (MRI)This cohort is defined by individuals with a SARA score between 0 and 15 (both values included). |
| Control participants | – | Procedure: Lumbar puncture, Other: Magnetic Resonance Imaging (MRI)This cohort is defined by individuals with a SARA score less than 5 and no significant neurological symptoms. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Lumbar punctureEach participant will undergo lumbar puncture at first visit (M0) and last visit (M12) | Procedure or surgery | Control participants, SCA early-manifest and premanifest patients |
| Magnetic Resonance Imaging (MRI)Each participant will undergo scanning at 3 visits (M0, M6 and M12) | Other | Control participants, SCA early-manifest and premanifest patients |
Primary outcome
Identification of biological, clinical and/or imaging biomarkers in SCA2 and SCA7 patients mutations carriers and patients through a multimodal assessment over one year to prepare therapeutic trials
Time frame: Over one year
17 secondary outcomes
To determine the cross-sectional and longitudinal variability of SARA (Scale for the Assessment and Rating of Ataxia) and CCFS (Composite Cerebellar Functional Score) scores in SCA 2 and SCA 7 gene mutation carriers and healthy controls over one
Time frame: Over one year
Determine the cross-sectional and longitudinal variability of volumetric MRI and NMR-proto spectroscopy in SCA 2 and SCA 7 gene mutation carriers and healthy controls
Time frame: Over one year
Delineate a specific pattern of frontal-like cognitive deficit in SCAs gene carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of CSF, blood and urine biomarkers in SCAs gene mutation carriers and controls
Time frame: Over one year
To explore the relationship of CSF, blood and urine biomarker levels in relation to clinical and imaging markers of disease progression
Time frame: Over one year
To assess the feedback of individuals for the disease (Most bothersome symptoms)
Time frame: Over one year
To assess the feedback of individuals for the disease thanks to quality of life questionnaires
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of quantitative measures of postural stability, free walking and turning in SCA 2 and SCA 7 mutation carriers and healthy controls
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of quantitative measures of oculomotor recording in SCA 2 and SCA 7 gene mutations carriers and healthy controls.
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of optical coherence tomography in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of adaptative optics in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of autofluorescence, visual acuity, in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of visual field in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of colour contrast sensitivity in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of electroretinogram in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of static perimetry in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
To determine the cross-sectional and longitudinal variability of visual evoked potential in SCA 2 and SCA 7 gene mutations carriers
Time frame: Over one year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Nov 2025.
- Results publication: PubMed 39133883Coarelli G, Dubec-Fleury C, Petit E, Sayah S, Fischer C, Nassisi M, Gatignol P, Dorgham K, Daghsen L, Daye P, Cunha P, Kacher R, Hilab R, Hurmic H, Lamaziere A, Lamy JC, Welter ML, Chupin M, Mangin JF, Lane R, Gaymard B, Pouget P, Audo I, Brice A, Tezenas du Montcel S, Durr A. Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers. Neurology. 2024 Sep 10;103(5):e209749. doi: 10.1212/WNL.0000000000209749. Epub 2024 Aug 12.
- Results publication: PubMed 38421662Nassisi M, Coarelli G, Blanchard B, Dubec-Fleury C, Drine K, Kitic N, Sancho S, Hilab R, Tezenas du Montcel S, Junge C, Lane R, Arnold HM, Durr A, Audo I. ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study. JAMA Ophthalmol. 2024 Apr 1;142(4):301-308. doi: 10.1001/jamaophthalmol.2024.0001.
- Derived from this study: PubMed 38419144Seemann J, Daghsen L, Cazier M, Lamy JC, Welter ML, Giese MA, Synofzik M, Durr A, Ilg W, Coarelli G. Digital Gait Measures Capture 1-Year Progression in Early-Stage Spinocerebellar Ataxia Type 2. Mov Disord. 2024 May;39(5):788-797. doi: 10.1002/mds.29757. Epub 2024 Feb 28.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Alexandra DURR principal investigator
Institut du Cerveau - Paris Brain Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinocerebellar Ataxia Type 2 and Spinocerebellar Ataxia Type 7, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of biological, clinical and/or imaging biomarkers in SCA2 and SCA7 patients mutations carriers and patients through a multimodal assessment over one year to prepare therapeutic trials (time frame: Over one year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04288128, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Nov 2025; AzTrials last refreshed its copy on 26 Oct 2026.