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โ† Trials
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Imaging Genetics of Laryngeal Dystonia

Recruitingn/aAges any - anyAllKristina Simonyan
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In plain words

What the trial is, and whether it could suit you

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 us

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๐Ÿ“‹ Eligibility rules (as published)
Inclusion criteria: 1. Males and females of diverse racial and ethnic background, with age across the lifespan; 2. Laryngeal Dystonia patients * phenotype: adductor or abductor * genotype: familial or sporadic 3. Voice Tremor patients * essential or * dystonic 4. Muscle tension dysphonia patients 5. Unaffected relatives of laryngeal dystonia patients with * familial laryngeal dystonia * early-onset laryngeal dystonia (onset at โ‰ค 35 y.o.) * typical onset laryngeal dystonia (onset at โ‰ฅ 40 y.o.) 6. Native English speakers. 7. Right-handedness. 8. Normal cognitive status. Exclusion criteria: 1. Subjects who are incapable of giving informed consent. 2. Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding. 3. 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) larynยฌgeal problems, such as vocal fold paralysis, paresis, vocal fold nodules and polyps, carcinoma, chronic laryngitis. 4. Patients who are not symptomatic due to treatment with botulinum toxin injections into the laryngeal muscles. 5. Subjects who receive medication(s) affecting the central nervous system. 6. Subjects with a history of major brain and/or laryngeal surgery. 7. Subjects who have tattoos, ferromagnetic objects in their bodies that cannot be removed for imaging study participation.
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What it tests

  • MRI
  • Blood draw
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Where

1 site
Massachusetts Eye and Ear Infirmary
Boston, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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