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Biomarker Research in Inherited Movement Disorders

NCT05034172 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 4000

Last updated 2024-04-12

No results posted yet for this study

Summary

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 :

1. establish the clinical spectrum and natural history of these diseases,
2. understand the role of genetic and familial factors on the phenotype,
3. elucidate the molecular basis of these disorders and evaluate diagnostic strategies involving molecular tools for clinical and genetic management,
4. develop multimodal biomarkers both for physiopathological studies and for accurate measures of disease progression,
5. develop trial ready cohorts of well characterized genetic patients,
6. test new therapies either symptomatic or based on pathophysiological mechanisms.

Conditions

  • Inherited Movement Disorders
  • Spinocerebellar Ataxias
  • Hyperkinetic Disorders

Interventions

OTHER

Clinical follow-up

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)

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Eligibility

Min Age
7 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-08-25
Primary Completion
2031-08-25
Completion
2031-08-25

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05034172 on ClinicalTrials.gov