| NCT ID | NCT03042975 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Kristina Simonyan |
| Condition | Laryngeal Dystonia |
| Study Type | OBSERVATIONAL |
| Enrollment | 410 participants |
| Start Date | 2017-01-23 |
| Primary Completion | 2028-07-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 410 participants in total. It began in 2017-01-23 with a primary completion date of 2028-07-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility 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.
Contact & Investigator
Kristina Simonyan, MD, PhD
PRINCIPAL INVESTIGATOR
Massachusetts Eye and Ear Infirmary
Frequently Asked Questions
Who can join the NCT03042975 clinical trial?
This trial is open to participants of all sexes, studying Laryngeal Dystonia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03042975 currently recruiting?
Yes, NCT03042975 is actively recruiting participants. Contact the research team at Simonyan_Lab@MEEI.HARVARD.EDU for enrollment information.
Where is the NCT03042975 trial being conducted?
This trial is being conducted at Boston, United States.
Who is sponsoring the NCT03042975 clinical trial?
NCT03042975 is sponsored by Kristina Simonyan. The principal investigator is Kristina Simonyan, MD, PhD at Massachusetts Eye and Ear Infirmary. The trial plans to enroll 410 participants.