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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
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief 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.

Condition or disease Intervention/treatment
Inherited Movement Disorders Spinocerebellar Ataxias Hyperkinetic Disorders Other: Clinical follow-up

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Study Type : Observational
Estimated Enrollment : 4000 participants
Observational Model: Cohort
Time Perspective: Prospective
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



Intervention Details:
  • 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)


Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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
Biological samples (optional) : blood sample, skin biopsy, excreta collection (saliva, urine, feces), cerebrospinal fluid collection (if Lumbar Puncture in standard care)


Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
  • Patients with hyperkinetic movement disorders
  • At risk individuals (gene mutation carriers) with inherited hyperkinetic movement disorders
  • Healthy controls to allow variant classification and establish normal values for scales
Criteria

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

Information from the National Library of Medicine

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


Contacts
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Contact: Alexandra DURR, PUPH 1.42.16.13.47 ext +33 alexandra.durr@aphp.fr

Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT05034172    
Other Study ID Numbers: APHP210069
First Posted: September 5, 2021    Key Record Dates
Last Update Posted: September 5, 2021
Last Verified: June 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Movement Disorders
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Disease
Attention Deficit Disorder with Hyperactivity
Pathologic Processes
Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Central Nervous System Diseases
Cerebellar Ataxia
Cerebellar Diseases
Brain Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Attention Deficit and Disruptive Behavior Disorders
Neurodevelopmental Disorders
Mental Disorders