Imaging Genetics of Spasmodic Dysphonia

Description

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 spasmodic dysphonia (or laryngeal dystonia). The researchers use a novel approach of combined imaging genetics, next-generation DNA sequencing, and clinico-behavioral testing. The use of a cross-disciplinary approach as a tool for discovery of the mediating neural mechanisms that bridge the gap from DNA sequence to 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 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 to develop spasmodic dysphonia in family members.

Study Start Date

January, 23 2017

Estimated Completion Date

February 2022

Interventions

  • Procedure: Blood draw
  • Other: MRI

Study ID

Massachusetts Eye and Ear Infirmary -- 17-068H

Status

Recruiting

Trial ID

NCT03042975

Study Type

Observational

Trial Phase

N/A

Enrollment Quota

298

Sponsor

Massachusetts Eye and Ear Infirmary

Inclusion Criteria

  • SD patients with clinically documented adductor or abductor form with and without familial history of SD and/or other forms of isolated dystonia
  • Unaffected relatives with a negative history of laryngeal, neurological, or psychiatric problems who are first-degree relatives of patients with sporadic or familial SD
  • Healthy controls with a negative history of laryngeal, neurological, or psychiatric problems and a negative family history of dystonia and any other movement disorders
  • Age from 21 to 80 years.
  • Native English speakers.
  • Right-handedness.

Exclusion Criteria

  • Subjects who are incapable of giving an informed consent.
  • Pregnant or breastfeeding women until a time when the women are no longer pregnant or breastfeeding. All women of childbearing potential will have a pregnancy test performed, which must be negative for participation in the imaging studies.
  • Subjects with past or present medical history of (a) neurological problems, such as stroke, movement disorders (other than SD 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) laryngeal problems, such as vocal fold paralysis, paresis, vocal fold nodules and polyps, carcinoma, chronic laryngitis.
  • Patients who are not symptomatic at present due to treatment with botulinum toxin injections into the laryngeal muscles. The duration of positive effects of botulinum toxin vary from patient to patient but last on average for 3-4 months. Prior to entering the study, all patients will be evaluated to ensure that they are fully symptomatic and are at least 3 months post last injection.
  • To avoid the possibility of confounding effects of drugs acting upon the central nervous system, all study participants will be questioned about any prescribed or over-the-counter medications as part of their initial intake screening. Those patients who receive medication(s) affecting the central nervous system will be excluded from the study.
  • The patients will be asked whether they have undergone any head and neck surgeries, particularly any brain surgery and laryngeal surgeries, such as thyroplasty, laryngeal denervation, and selective laryngeal adductor denervation-reinnervation. Because both brain and laryngeal surgery may potentially lead to the brain structure and function re-organization, patients with history of brain and/or laryngeal surgery might be excluded from the study.
  • Subjects who have extensive tattoos on their head and neck, ferromagnetic objects in their bodies (e.g., implanted stimulators, surgical clips, prosthesis, artificial heart valve, etc.) that cannot be removed for the purpose of imaging study participation.

Gender

All

Ages

21 Years to 80 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Study Locations and Contact Information (5)

Study Location Distance Name Phone Email
Massachusetts Eye and Ear Infirmary - Boston, Massachusetts 2.8 miles Kristina Simonyan MD PhD 617-573-6025 dystonia.research@gmail.com
Massachusetts Eye and Ear Infirmary - Boston, Massachusetts 2.8 miles Kristina Simonyan MD PhD 617-573-6025 dystonia.research@gmail.com
Massachusetts Eye and Ear Infirmary - Boston, Massachusetts 2.8 miles Kristina Simonyan MD PhD 617-573-6025 dystonia.research@gmail.com
Massachusetts Eye and Ear Infirmary - Boston, Massachusetts 2.8 miles Kristina Simonyan MD PhD 617-573-6025 dystonia.research@gmail.com
Massachusetts Eye and Ear Infirmary - Boston, Massachusetts 2.8 miles Kristina Simonyan MD PhD 617-573-6025 dystonia.research@gmail.com

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