Study Results
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Basic Information
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RECRUITING
141 participants
OBSERVATIONAL
2015-08-01
2027-12-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
CROSS_SECTIONAL
Study Groups
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Patients with dystonia and their unaffected relatives
Patients with dystonia and their unaffected blood relatives will undergo MRI of the brain and blood draw.
MRI
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
Blood draw
Blood samples will be collected, the DNA will be extracted and banked for genetic studies
Healthy volunteers
Healthy subjects without any neurological, psychiatric or otolaryngological problems will undergo MRI of the brain and blood draw.
MRI
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
Blood draw
Blood samples will be collected, the DNA will be extracted and banked for genetic studies
Interventions
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MRI
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
Blood draw
Blood samples will be collected, the DNA will be extracted and banked for genetic studies
Eligibility Criteria
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Inclusion Criteria
* Unaffected relatives of patients with focal dystonia
* Healthy controls will be healthy volunteers with a negative history of neurological, laryngeal or psychiatric problems
* Age from 21 to 80 years.
* Native English speakers.
* Right-handedness (based on Edinburgh Handedness Inventory).
Exclusion Criteria
* Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding. All women of childbearing potential will have a urine pregnancy test performed, which must be negative for participation in the imaging studies.
* Subjects with past or present medical history of (a) neurological problems, such as stroke, movement disorders (other than dystonia in the patient groups), brain tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies, myasthenia gravis, demyelinating diseases, alcoholism, drug depend-ence; (b) psychiatric problems, such as schizophrenia, major and/or bipolar depression, obsessive-compulsive disorder; (c) laryngeal 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. The duration of positive effects of botulinum toxin vary from patient to patient but lasts on average for 3-4 months. All patients will be evaluated to ensure that they are fully symptomatic prior to entering the study.
* Patients with other forms of dystonia.
* Patients who have dystonia symptoms at rest in order to avoid the potential confound of dystonic spasms occurring during the scanning.
* To avoid the possibility of confounding effects of drugs acting upon the central nervous system, all study participants will be questioned about any prescribed or over-the-counter medications as part of their initial intake screening. Those patients who receive medication(s) affecting the central nervous system will be excluded from the study.
* The patients will be asked whether they have undergone any head, neck, or hand surgeries, which resulted in changes in regional anatomy or innervation. Because brain, hand and laryngeal surgery may potentially lead to the brain structure and function re-organization, all patients with history of brain, hand and/or laryngeal surgery will be excluded from the study.
* Subjects who have tattoos, ferromagnetic objects in their bodies (e.g., implanted stimulators, surgical clips, prosthesis, artificial heart valve, etc.) that cannot be removed for the purpose of study participation.
21 Years
80 Years
ALL
Yes
Sponsors
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National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Massachusetts Eye and Ear Infirmary
OTHER
Responsible Party
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Kristina Simonyan
Professor of Otolaryngology - Head and Neck Surgery
Principal Investigators
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Kristina Simonyan, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Massachusetts Eye and Ear Infirmary
Locations
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Massachusetts Eye and Ear
Boston, Massachusetts, United States
Countries
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Central Contacts
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Facility Contacts
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References
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Battistella G, Termsarasab P, Ramdhani RA, Fuertinger S, Simonyan K. Isolated Focal Dystonia as a Disorder of Large-Scale Functional Networks. Cereb Cortex. 2017 Feb 1;27(2):1203-1215. doi: 10.1093/cercor/bhv313.
Fuertinger S, Simonyan K. Stability of Network Communities as a Function of Task Complexity. J Cogn Neurosci. 2016 Dec;28(12):2030-2043. doi: 10.1162/jocn_a_01026. Epub 2016 Aug 30.
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Fuertinger S, Simonyan K. Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia. J Neurosci. 2017 Aug 2;37(31):7438-7449. doi: 10.1523/JNEUROSCI.0384-17.2017. Epub 2017 Jul 3.
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Schill J, Simonyan K, Corsten M, Mathys C, Thiel C, Witt K. Graph-theoretical insights into the effects of aging on the speech production network. Cereb Cortex. 2023 Feb 20;33(5):2162-2173. doi: 10.1093/cercor/bhac198.
Schill J, Zeuner KE, Knutzen A, Todt I, Simonyan K, Witt K. Functional Neural Networks in Writer's Cramp as Determined by Graph-Theoretical Analysis. Front Neurol. 2021 Nov 23;12:744503. doi: 10.3389/fneur.2021.744503. eCollection 2021.
Yao D, O'Flynn LC, Simonyan K. DystoniaBoTXNet: Novel Neural Network Biomarker of Botulinum Toxin Efficacy in Isolated Dystonia. Ann Neurol. 2023 Mar;93(3):460-471. doi: 10.1002/ana.26558. Epub 2022 Dec 14.
Frankford SA, O'Flynn LC, Simonyan K. Sensory processing in the auditory and olfactory domains is normal in laryngeal dystonia. J Neurol. 2023 Apr;270(4):2184-2190. doi: 10.1007/s00415-023-11562-z. Epub 2023 Jan 14.
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Related Links
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NIH grant description
Other Identifiers
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2019P001183
Identifier Type: -
Identifier Source: org_study_id
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