Spinocerebellar Ataxia Type 2 Clinical Trial
— CERMOIOfficial title:
Integrated Functional Evaluation of the Cerebellum
Verified date | February 2023 |
Source | Institut National de la Santé Et de la Recherche Médicale, France |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 40 |
Est. completion date | June 1, 2022 |
Est. primary completion date | May 20, 2022 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 18 Years and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
France | Institut du Cerveau - Paris Brain Institute | Paris |
Lead Sponsor | Collaborator |
---|---|
Institut National de la Santé Et de la Recherche Médicale, France | Biogen, Ionis Pharmaceuticals, Inc. |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | 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 | ||
Secondary | 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 | ||
Secondary | 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. | Over one year | |
Secondary | 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 | Over one year | |
Secondary | To explore the relationship of CSF, blood and urine biomarker levels in relation to clinical and imaging markers of disease progression | Over one year | ||
Secondary | 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 | Over one year | |
Secondary | 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). |
Over one year | |
Secondary | 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 | Over one year | |
Secondary | 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. | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of optical coherence tomography in SCA 2 and SCA 7 gene mutations carriers | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of adaptative optics in SCA 2 and SCA 7 gene mutations carriers | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of autofluorescence, visual acuity, in SCA 2 and SCA 7 gene mutations carriers | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of visual field in SCA 2 and SCA 7 gene mutations carriers | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of colour contrast sensitivity in SCA 2 and SCA 7 gene mutations carriers | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of electroretinogram in SCA 2 and SCA 7 gene mutations carriers | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of static perimetry in SCA 2 and SCA 7 gene mutations carriers | Over one year | ||
Secondary | To determine the cross-sectional and longitudinal variability of visual evoked potential in SCA 2 and SCA 7 gene mutations carriers | Over one year |
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