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| ID | Type | Description | Link |
|---|---|---|---|
| IDRCB | Other Identifier | 2015-A00211-48 |
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Dystonia in Wilson's disease represent a major issue. The persistence of disabling motor symptoms despite medical treatments justifies conducting a study on deep brain stimulation (DBS) in Wilson's disease (WD). For bradykinetic patients, subthalamic nucleus (STN) could be considered as a better target than the globus pallidus (GPi). For patients with hyperkinetic dystonia, the internal globus pallidus (GPi) will be chosen as the target of DBS.
The investigators hypothesize that STN DBS will improve Wilson's disease patients, who, despite copper chelators drugs, are still impaired by severe dystonia and akinesia (more or less associated with other movement disorders).
The investigators primary objective is to demonstrate the efficacy of STN/GPi DBS on dystonia associated with Wilson's disease.
Secondary objectives:
4 periods of stimulation on and off, sequence randomized at Day 0.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Stimulation "on" | Experimental | The deep brain stimulation is "on" |
|
| Stimulation "off" | Sham Comparator | The deep brain stimulation is "off" |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Medtronic, Activa® PC "on" | Device |
| ||
| Medtronic, Activa® PC "off" |
| Measure | Description | Time Frame |
|---|---|---|
| Change in movement disorder evaluated by the Canadian Occupational Performance Measure (COPM) performance and satisfaction scores | Efficacy will be assessed by the change in the COPM performance and satisfaction scores after each 4 month-period of stimulation on and off, using blinded evaluations. The COPM is a standardized outcome measure widely used in occupational therapy. This tool can facilitate the identification of functional difficulties and individualized subject-specific priorities for intervention, which may not be captured with other standardized scales. | 21 months |
| Measure | Description | Time Frame |
|---|---|---|
| Other movement disorder will be assessed by the reduction of the Burke-Fahn-Marsden (BFM) dystonia scale score | The reduction of the Burke-Fahn-Marsden (BFM) dystonia scale score is evaluated after each 4 month-period of stimulation on and off, using blinded video evaluations. This scale is the standard of assessments on dystonia and Parkinson. | 21 months |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Stéphane THOBOIS, MD | Hospices Civils de Lyon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospices Civils de Lyon | Lyon | France | ||||
| Hopital Lariboisiere |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39468897 | Result | Laurencin C, Poujois A, Bonjour M, Demily C, Klinger H, Roze E, Leclert V, Danaila T, Langlois-Jacques C, Couchonnal E, Woimant F, Obadia MA, Perez G, Pernon M, Blanchet L, Broussolle E, Vidailhet M, Kassai B, Moro E, Karachi C, Polo G, Grabli D, Portefaix A, Thobois S. Deep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta-analysis of an N-of-1 trial. Eur J Neurol. 2025 Jan;32(1):e16524. doi: 10.1111/ene.16524. Epub 2024 Oct 29. |
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| ID | Term |
|---|---|
| D004421 | Dystonia |
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D020820 | Dyskinesias |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
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| Device |
|
| Change in other movement disorder evaluated by the Clinical global impression (CGI) scale | 21 months |
| Change in other movement disorder evaluated by the Unified Wilson Disease Rate Scale (UWDRS) | The UWDRS consists of 3 sections, including: consciousness, a historical review based on the Barthel scale, and neurological examination. | 21 months |
| Cognitive evaluation using the Mini Mental Status Examination (MMSE) | The MMSE is a brief 30-point questionnaire test commonly used to screen for dementia. | Screening visit (2 days) |
| Cognitive evaluation using the Frontal Assessment Battery (FAB) | The FAB is a brief tool used to assess dysexecutive symptoms. | Screening visit (2 days) |
| Cognitive evaluation using the BDI-II (Beck Depression Inventory) | The BDI-II is a self- report inventory for measuring the severity of depression. | Screening visit (2 days) |
| Cognitive evaluation using the similarities and matrix reasoning tests from the Wechsler Adult Intelligence Scale (WAIS-IV) | The test of similarities measures concrete, functional, and abstract concept formation. The test of matrix reasoning measures nonverbal analytical reasoning. | Pre-surgery visit (2 days) |
| Cognitive evaluation using the Modified Card Sorting Test (MCST) | The MCST assess problem solving and the ability to shift cognitive strategies in response to changing environmental contingencies. | Pre-surgery visit (2 days) |
| Cognitive evaluation using the Trail Making Test (TMT) | The TMT assess visuo-motor speed and task switching abilities. | Pre-surgery visit (2 days) |
| Cognitive evaluation using the phonemic verbal fluency task | The phonemic verbal fluency task assesses intrinsic response generation. | Pre-surgery visit (2 days) |
| Cognitive evaluation using the 16-items free and cued recall test (RL/RI 16-items) | The RL/RI 16-items test assesses episodic memory and especially abilities to retrieve information from memory. | Pre-surgery visit (2 days) |
| Change in cognitive outcome evaluated by the Tasks of the test of Attentional Performance (TAP) | The TAP is a normalized computerized battery to assess attentional and executive abilities. | 21 months |
| Change in behavioral and neuropsychiatric outcome evaluated by the "Inventaire du Syndrome Dysexécutif Comportemental" (ISDC) | The ISDC assesses behavioral dysexecutive symptoms. | 21 months |
| Change in behavioral and neuropsychiatric outcome evaluated by the Brief Psychiatric Rating Scale with anchor (BPRS-E(A)) | The BPRS-E(A) is widely used to measure psychiatric symptoms and unusual behavior. | 21 months |
| Change in dysarthria and deglutition outcome evaluated by the spontaneous speech and reading | 21 months |
| Change in dysarthria and deglutition outcome evaluated by the the "Batterie d'Evaluation de la Dysarthrie" (BECD) | This BECD score provides a global assessment of dysarthria severity. | 21 months |
| Change in dysarthria and deglutition outcome evaluated by the Voice Handicap Index (VHI) | The VHI is a questionnaire to quantify the functional, physical and emotional impacts of a voice disorder on a patient's quality of life. | 21 months |
| Change in dysarthria and deglutition outcome evaluated by the maximum phonation time | 21 months |
| Change in dysarthria and deglutition outcome evaluated by the GRBAS (Grade, Roughness, Breathiness, Asthenia, Strain) scale | Auditory-perceptual evaluation method for hoarseness is the GRBAS scale of the Japan Society of Logopedics and Phoniatrics, which rates hoarseness. | 21 months |
| Change in dysarthria and deglutition outcome evaluated by the Deglutition Handicap Index (DHI) | The DHI questionnaire is composed of statements on deglutition related aspects in daily life. It is subdivided in three domains: physical (S) (symptoms related to swallowing), functional (F) (nutritional and respiratory consequences) and emotional (E) (psychosocial consequences). | 21 months |
| Change in dysarthria and deglutition outcome evaluated by the timed test of swallowing capacity | 21 months |
| Change in social outcome evaluated by the Zarit Burden Inventory (ZBI) | The ZBI is a popular caregiver self-report measure used by many aging agencies. | 21 months |
| Tolerance of Deep Brain Stimulation: occurrence of serious adverse events | Clinical examination focusing specifically on vital signs. | 23 months |
| Paris |
| France |
| HĂ´pital Fondation Adolphe de Rothschild Paris | Paris | France |
| D013568 |
| Pathological Conditions, Signs and Symptoms |
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |