Imaging Genetics of Laryngeal Dystonia (NCT03042975) | Clinical Trial Compass
RecruitingNot Applicable
Imaging Genetics of Laryngeal Dystonia
United States410 participantsStarted 2017-01-23
Plain-language summary
The contribution of genetic risk factors to the development of focal dystonias is evident. However, understanding of how variations in the causative gene expression lead to variations in brain abnormalities in different phenotypes of dystonia (e.g., familial, sporadic) remains limited. The research program of the investigators is set to determine the relationship between brain changes and genetic risk factors in laryngeal dystonia (or spasmodic dysphonia). The researchers use a novel approach of combined imaging genetics, next-generation DNA sequencing, and clinical-behavioral testing. The use of a cross-disciplinary approach as a tool for the discovery of the mediating neural mechanisms that bridge the gap from DNA sequence to the pathophysiology of dystonia holds a promise for the understanding of the mechanistic aspects of brain function affected by risk gene variants, which can be used reliably for the discovery of associated genes and neural integrity markers for this disorder. The expected outcome of this study may lead to better clinical management of this disorder, including its improved detection, accurate diagnosis, and assessment of the risk of developing dystonia in family members.
Who can participate
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Inclusion criteria
✓. Males and females of diverse racial and ethnic background, with age across the lifespan;
✓. Laryngeal Dystonia patients
✓. Voice Tremor patients
✓. Muscle tension dysphonia patients
✓. Unaffected relatives of laryngeal dystonia patients with
✓. Native English speakers.
✓. Right-handedness.
✓. Normal cognitive status.
Exclusion criteria
✕. Subjects who are incapable of giving informed consent.
✕. Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding.
✕. Subjects with past or present medical history of (a) major neurological problems, such as stroke, movement disorders (other than LD and VT in the patient groups), brain tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies, myasthenia gravis, demyelinating diseases, alcoholism, drug dependence; (b) psychiatric problems, such as schizophrenia, bipolar depression, obsessive-compulsive disorder; (c) laryn¬geal problems, such as vocal fold paralysis, paresis, vocal fold nodules and polyps, carcinoma, chronic laryngitis.