Integrated Functional Evaluation of the Cerebellum
CERMOI
2 other identifiers
observational
40
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started May 2020
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 17, 2020
CompletedFirst Posted
Study publicly available on registry
February 28, 2020
CompletedStudy Start
First participant enrolled
May 28, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 20, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
June 1, 2022
CompletedNovember 18, 2025
January 1, 2025
2 years
February 17, 2020
November 14, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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
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
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
Over one year
Delineate a specific pattern of frontal-like cognitive deficit in SCAs gene carriers
Over one year
To determine the cross-sectional and longitudinal variability of CSF, blood and urine biomarkers in SCAs gene mutation carriers and controls
Over one year
To explore the relationship of CSF, blood and urine biomarker levels in relation to clinical and imaging markers of disease progression
Over one year
- +12 more secondary outcomes
Study Arms (2)
SCA early-manifest and premanifest patients
This cohort is defined by individuals with a SARA score between 0 and 15 (both values included).
Control participants
This cohort is defined by individuals with a SARA score less than 5 and no significant neurological symptoms.
Interventions
Each participant will undergo lumbar puncture at first visit (M0) and last visit (M12)
Each participant will undergo scanning at 3 visits (M0, M6 and M12)
Eligibility Criteria
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.
You may qualify if:
- 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
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Institut National de la Santé Et de la Recherche Médicale, Francelead
- Biogencollaborator
- Ionis Pharmaceuticals, Inc.collaborator
Study Sites (1)
Institut du Cerveau - Paris Brain Institute
Paris, 75013, France
Related Publications (2)
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.
PMID: 39133883RESULTNassisi 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.
PMID: 38421662RESULT
Biospecimen
Whole blood collected for DNA analysis
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Alexandra DURR
Institut du Cerveau - Paris Brain Institute
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER GOV
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
February 17, 2020
First Posted
February 28, 2020
Study Start
May 28, 2020
Primary Completion
May 20, 2022
Study Completion
June 1, 2022
Last Updated
November 18, 2025
Record last verified: 2025-01