Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC "
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Purpose
Mirror movements are involuntary, symmetrical and simultaneous movements occurring on one side of the body that accompany controlateral voluntary movements. Congenital mirror movements (CMM) are characterized by childhood onset and the absence of additional manifestations. The aim of this study is to unravel the pathophysiology of the CMM that remains poorly elucidated. The combination of imaging studies and neurophysiological studies using transcranial magnetic stimulation in a homogeneous and relatively large group of patient is likely to allow us to better understand the underlying pathophysiology of the disorder. Using a linkage analysis approach we will try to identify a locus associated with CMM and related candidate genes.
| Condition | Intervention |
|---|---|
|
Healthy |
Other: healthy volunteers Other: Kallmann Other: Congenital Mirror Movement |
| Study Type: | Interventional |
| Study Design: | Allocation: Non-Randomized Intervention Model: Parallel Assignment Masking: Open Label Primary Purpose: Basic Science |
| Official Title: | Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification : MOMIC |
- - To unravel the pathophysiology of congenital mirror movements - To identify a locus and candidate genes associated with CMM [ Time Frame: 08/2011 ] [ Designated as safety issue: No ]
- - To study patients with Kallmann syndrome and associated MM based on the same methods and hypothesis [ Time Frame: 08/2011 ] [ Designated as safety issue: No ]
| Estimated Enrollment: | 45 |
| Study Start Date: | February 2010 |
| Estimated Study Completion Date: | August 2012 |
| Estimated Primary Completion Date: | August 2012 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
|
healthy volunteers
healthy volunteers
|
Other: healthy volunteers
morphological and functional brain MRI; transcranial magnetic stimulation
|
|
Kallmann
Kallmann syndrome patients
|
Other: Kallmann
morphological and functional brain MRI; transcranial magnetic stimulation
|
|
Congenital Mirror Movement
patients with CMM
|
Other: Congenital Mirror Movement
morphological and functional brain MRI; transcranial magnetic stimulation
|
Eligibility| Ages Eligible for Study: | 11 Years to 82 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
Inclusion Criteria:
- Patients aged from 11 to 82 years
- Members of the family of interest displaying mirror movements or being obligatory asymptomatic carrier, without additional manifestation or malformation; or patient with genetically proven Kallmann syndrome and mirror movements.
- No contraindication for MRI or TMS study
Exclusion Criteria:
- inability to provide an informed consent
- Simultaneous participation in another clinical trial
- Treatment that modulate cortical excitability (for the TMS part of the study only)
Contacts and Locations| Contact: Emmanuel ROZE, MD | 331 42 16 19 74 | emmanuel.roze@psl.aphp.fr |
| France | |
| Fédération des Maladies du Système Nerveux, Hôpital Pitié Salpétrière | Recruiting |
| Paris, France, 75013 | |
| Contact: Emmanuel ROZE, MD 331 42 16 19 74 emmanuel.roze@psl.aphp.fr | |
| Principal Investigator: | Emmanuel ROZE, MD | Institut National de la Santé Et de la Recherche Médicale, France |
More Information
No publications provided
| Responsible Party: | Institut National de la Santé Et de la Recherche Médicale, France |
| ClinicalTrials.gov Identifier: | NCT01075061 History of Changes |
| Other Study ID Numbers: | C09-06 |
| Study First Received: | February 4, 2010 |
| Last Updated: | December 29, 2011 |
| Health Authority: | France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis) |
Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
|
Congenital mirror movement, physiopathology, imaging, transcranial magnetic stimulation, candidate gene |
ClinicalTrials.gov processed this record on June 17, 2013