Imaging Genetics of Laryngeal Dystonia

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Kristina Simonyan
Study ID
NCT03042975
Status
Recruiting
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Conditions

  • Laryngeal Dystonia
  • Muscle Tension Dysphonia
  • Unaffected Relatives of Laryngeal Dystonia Patients
  • Voice Tremor

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • MRI — OTHER
    Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
  • Blood draw — PROCEDURE
    Blood samples will be collected, the DNA will be extracted and banked for genetic studies.

Study Details

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.

Key Dates

Start date
Jan 23, 2017
Status verified
Nov 2025
Primary completion
Jul 31, 2028
Completion
Jul 31, 2028

Study Design

Enrollment
410 participants (estimated)

Arms

  • Arm: Laryngeal Dystonia
    Patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.
  • Arm: Unaffected relatives of laryngeal dystonia patients
    Unaffected relatives of patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.
  • Arm: Voice tremor
    Patients with voice tremor will undergo an MRI of the brain and a blood draw.
  • Arm: Muscle tension dysphonia
    Patients with muscle tension dysphonia will undergo an MRI of the brain and a blood draw.

Primary Outcome Measure

Brain changes in laryngeal dystonia [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Massachusetts Eye and Ear InfirmaryBostonMassachusetts02114
Kristina Simonyan, MD, PhD
[email protected]
617-573-6016
Kristina Simonyan, MD, PhD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Boston, MA

By research site
Massachusetts Eye and Ear Infirmary· Boston, MA

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