Biomarker Research in Inherited Movement Disorders (BIOMOV)
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|ClinicalTrials.gov Identifier: NCT05034172|
Recruitment Status : Not yet recruiting
First Posted : September 5, 2021
Last Update Posted : September 5, 2021
Inherited movement disorders are rare conditions, whose cumulative prevalence are in the order of 5-10/100,000 inhabitants, in most cases progressive and can lead to a significant loss of autonomy after one or more decades of evolution. They include spinocerebellar ataxias and hyperkinetic disorders (dystonias, choreas, tremor, parkinsonism and myoclonus with variable combination of those, or more complex alteration of movements). The existence of the National Reference Centre (CMR) for Rare Diseases (CMR Neurogenetics, devoted to ataxias and spastic paraparesis, dystonia and rare movement disorders and CMR Huntington, devoted to Huntington Disease) has allowed a more integrated vision of these diseases. This is illustrated, in the same family, by the occurrence of different clinical expressions of spinocerebellar ataxias and hyperkinetic disorders that share the same genetic background. Conversely, different causal mutations within the same gene may have very different ages at onset and a wide range of clinical expression, and the spectrum of new phenotypes linked to a single gene is still expanding . Many ataxia and dystonia genes are involved in similar pathways. There are numerous arguments supporting a share pathogenesis including synaptic transmission and neurodevelopment .
BIOMOV project aims to :
- establish the clinical spectrum and natural history of these diseases,
- understand the role of genetic and familial factors on the phenotype,
- elucidate the molecular basis of these disorders and evaluate diagnostic strategies involving molecular tools for clinical and genetic management,
- develop multimodal biomarkers both for physiopathological studies and for accurate measures of disease progression,
- develop trial ready cohorts of well characterized genetic patients,
- test new therapies either symptomatic or based on pathophysiological mechanisms.
|Condition or disease||Intervention/treatment|
|Inherited Movement Disorders Spinocerebellar Ataxias Hyperkinetic Disorders||Other: Clinical follow-up|
|Study Type :||Observational|
|Estimated Enrollment :||4000 participants|
|Official Title:||Biomarker Research in Inherited Movement Disorders|
|Estimated Study Start Date :||August 25, 2021|
|Estimated Primary Completion Date :||August 15, 2031|
|Estimated Study Completion Date :||August 15, 2031|
- Other: Clinical follow-up
demographic data and history,
- Retrospective interview (collection of data useful for genetic studies): -disease history (for patients only);
- Family history - Neurological examination:
- Diagnosis Clinical examination;
- Rating scales specific to the pathology under investigation;
- Cerebral MRI (optional)
- Biological samples (optional)
- Genetic entities among rare movement disorders: Pathology characterization (clinical spectrum) and its natural history: clinical Biomarkers [ Time Frame: 10 years ]Comparison of clinical biomarkers at different disease stages compared to controls.
- Genetic entities among rare movement disorders: Pathology characterization (clinical spectrum) and its natural history : genetic Biomarkers [ Time Frame: 10 years ]Comparison of genetic biomarkers at different disease stages compared to controls.
- Genetic entities among rare movement disorders: Pathology characterization (clinical spectrum) and its natural history : biological and/or imaging Biomarkers [ Time Frame: 10 years ]Comparison of biological and/or imaging biomarkers at different disease stages compared to controls.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05034172
|Contact: Alexandra DURR, PUPH||220.127.116.11.47 ext +email@example.com|