Biomarker Research in Inherited Movement Disorders

NCT05034172 · tracked via the Priya Life Science France tracker

Sponsor

Assistance Publique - Hôpitaux de Paris

Phase

Observational

Started

2021-08-25

Last updated

2024-04-12

Condition(s) studied

Inherited Movement DisordersSpinocerebellar AtaxiasHyperkinetic Disorders

Investigational drug(s) / intervention(s)

Clinical follow-up

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)

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.

Eligibility

Sex

ALL

Min age

7 Years

Max age

—

Healthy volunteers

Accepted

Inclusion Criteria: Common inclusion criteria for all participants: \- - Affiliated with a social security system or beneficiary of such a regime Group of patients: Any patient with inherited hyperkinetic movement disorders can be included in the study according to the following criteria: Woman or man; * Clinical diagnosis of inherited hyperkinetic movement disorders with or without a genetic diagnosis * With or without familial history of the disease * Age ≥ 7 years; * Signed Informed consent by the patient or both of holders of the parental authority for minors, or by the le;gal guardian for adults under guardianship Group of at-risk individuals: * Woman or man; * Age ≥ 18 years old; * A first-degree relative of a patient with inherited hyperkinetic movement disorders * OR a carrier of an identified pathogenic variant or expansion in one of the pathological gene variant involved in one of these diseases; * Normal neurological examination; according to disease specific scales * Signed Informed consent by the subject or by the legal guardian for adults under guardianship Group of healthy controls: * Woman or man; * Aged ≥ 18 years old; * Free of known neurological pathology; * No significant neurological symptoms; * Signed Informed consent by the subject Common inclusion criteria for elective participant for skin biopsy (optional): - Age ≥10 ans * Ability to undergo a skin biopsy Common inclusion criteria for elective participant for MRI examination (optional): - Ability to undergo a MRI. Exclusion Criteria: Absolute criteria for non-inclusion for all groups: \- Person deprived of their liberty by judicial decision Contra-indications to MRI examination\* (optional): metallic implant, pacemaker, artificial heart valve, brain vascular malformation, aneurysm clips, exposed by metallic fragments, artificial implants, peripheral or neuronal stimulator, insulin pump, intravenous catheter, epilepsy, metallic contraceptive device, claustrophobia, Contra-indication to skin biopsy (optional): * Taking anticoagulant or antiplatelet medication (see above), * History of hemostasis disorders, * Presence of hemorrhagic risk verified by a coagulation test

Primary outcome measure(s)

Genetic entities among rare movement disorders: Pathology characterization (clinical spectrum) and its natural history: clinical Biomarkers — 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 — 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 — 10 years
Comparison of biological and/or imaging biomarkers at different disease stages compared to controls.

Trial sites (1)

Facility	City	Region	Status
Hôpital Pitié Salpetrière	Paris	France	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05034172 on ClinicalTrials.gov ↗ ← All trials in France