Biomarker Research in Inherited Movement Disorders

NCT05034172 | Recruiting

• 1 other identifier: APHP210069
• Study Type: observational
• Target: 4,000
• Locations: 1 country
• Sites: 1

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

Conditions

Inherited Movement Disorders; Spinocerebellar Ataxias; Hyperkinetic Disorders

Outcome Measures

Primary Outcomes (3)

• Genetic entities among rare movement disorders: Pathology characterization (clinical spectrum) and its natural history: clinical Biomarkers

  Comparison of clinical biomarkers at different disease stages compared to controls.

  10 years

• Genetic entities among rare movement disorders: Pathology characterization (clinical spectrum) and its natural history : genetic Biomarkers

  Comparison of genetic biomarkers at different disease stages compared to controls.

  10 years

• Genetic entities among rare movement disorders: Pathology characterization (clinical spectrum) and its natural history : biological and/or imaging Biomarkers

  Comparison of biological and/or imaging biomarkers at different disease stages compared to controls.

  10 years

Interventions

Clinical follow-up 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)

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• \- - 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

You may not qualify if:

• \- 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Pitié Salpetrière

Paris, 75013, France

RECRUITING

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)

MeSH Terms

Conditions

Spinocerebellar Ataxias; Attention Deficit Disorder with Hyperactivity

Condition Hierarchy (Ancestors)

Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Attention Deficit and Disruptive Behavior Disorders; Neurodevelopmental Disorders; Mental Disorders

Central Study Contacts

Alexandra DURR, PUPH

CONTACT

142161347; alexandra.durr@aphp.fr

Mariana ATENCIO-SEGURA

CONTACT

142161347; mariana.atencio@icm-institute.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 17, 2021
• First Posted: September 5, 2021
• Study Start: August 25, 2021
• Primary Completion (Estimated): August 25, 2031
• Study Completion (Estimated): August 25, 2031
• Last Updated: April 12, 2024

Record last verified: 2024-04

Locations

FR (1)