Exploring genetic and brain imaging factors in laryngeal dystonia
Imaging Genetics of Laryngeal Dystonia
This study is trying to see how genetics and brain changes are linked in people with laryngeal dystonia to help understand the condition better and find early signs in those at risk.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 410 (estimated) |
| Sex | All |
| Sponsor | Massachusetts Eye and Ear Infirmary Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT03042975 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the relationship between genetic risk factors and brain abnormalities in patients with laryngeal dystonia, a condition characterized by involuntary spasms affecting speech production. By employing advanced imaging techniques, next-generation DNA sequencing, and clinical-behavioral assessments, the researchers aim to identify neural markers that differentiate between various clinical phenotypes and genotypes of the disorder. The study also seeks to discover early predictive markers of laryngeal dystonia in at-risk individuals and validate associated gene mutations. This cross-disciplinary approach promises to enhance understanding of the underlying mechanisms of dystonia and improve diagnostic accuracy.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with laryngeal dystonia, voice tremor, muscle tension dysphonia, and unaffected relatives of patients with familial laryngeal dystonia.
Not a fit: Patients with major neurological problems or those unable to provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic tools and early interventions for patients with laryngeal dystonia.
How similar studies have performed: While the approach is innovative, similar studies have shown promise in understanding genetic and neural factors in other forms of dystonia.
Eligibility criteria
Show full inclusion / exclusion criteria
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 ≤ 35 y.o.) * typical onset laryngeal dystonia (onset at ≥ 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) laryn¬geal 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.
Where this trial is running
Boston, Massachusetts
- Massachusetts Eye and Ear Infirmary — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Kristina Simonyan, MD, PhD — Massachusetts Eye and Ear Infirmary
- Study coordinator: Kristina Simonyan, MD, PhD
- Email: Simonyan_Lab@MEEI.HARVARD.EDU
- Phone: 617-573-6016
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.