Imaging Genetics of Laryngeal Dystonia

Recruiting now

Conditions studied: Laryngeal Dystonia, Unaffected Relatives of Laryngeal Dystonia Patients, Voice Tremor, Muscle Tension Dysphonia

In brief

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 facts

Study ID

NCT03042975

Run by

Kristina Simonyan

People needed

410

Starts

2017-01-23

Expected to finish

2028-07-31

Last updated by the study team

2025-12-02

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Males and females of diverse racial and ethnic background, with age across the lifespan;
• Laryngeal Dystonia patients
• phenotype: adductor or abductor
• genotype: familial or sporadic
• Voice Tremor patients
• essential or
• dystonic
• Muscle tension dysphonia patients
• Unaffected relatives of laryngeal dystonia patients with
• familial laryngeal dystonia
• early-onset laryngeal dystonia (onset at ≤ 35 y.o.)
• typical onset laryngeal dystonia (onset at ≥ 40 y.o.)
• Native English speakers.
• Right-handedness.
• Normal cognitive status.

You may not qualify if…

• 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.
• Patients who are not symptomatic due to treatment with botulinum toxin injections into the laryngeal muscles.
• Subjects who receive medication(s) affecting the central nervous system.
• Subjects with a history of major brain and/or laryngeal surgery.
• Subjects who have tattoos, ferromagnetic objects in their bodies that cannot be removed for imaging study participation.

Where it is running

• Massachusetts Eye and Ear Infirmary — Boston, Massachusetts, United States (enrolling)

Full record on ClinicalTrials.gov

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