Imaging Genetics of Laryngeal Dystonia (NCT03042975)
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: To join this study, participants generally need to meet the listed inclusion criteria (15 items) and avoid the listed exclusions (8 items).
Location: Massachusetts Eye and Ear Infirmary — Boston, Massachusetts
🧪 Interventions in This Study
- MRI (OTHER)
- Blood draw (PROCEDURE)
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistCheck every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).
Usually NOT eligible if any of the following apply:
- Exclusion criteria:
- 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.
🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.
📍 All Participating Trial Locations (1 Sites)
- Massachusetts Eye and Ear Infirmary — Boston, Massachusetts
📞 Contact the Study Coordinator
Phone: (617) 573-6016
Email: Simonyan_Lab@MEEI.HARVARD.EDU
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Laryngeal Dystonia
- Deep Brain Stimulation in Laryngeal Dystonia and Voice Tremor — Boston, Massachusetts
- Understanding Disorder-specific Neural Pathophysiology in Laryngeal Dystonia and Voice Tremor — Boston, Massachusetts
- Brain-Computer Interfaces in Laryngeal Dystonia — Boston, Massachusetts
- Effects of Neuromodulation in Laryngeal Dystonia — Boston, Massachusetts
- tDCS for Laryngeal Dystonia — New Haven, Connecticut
Explore by condition: All Laryngeal Dystonia clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.