RECRUITING

Imaging Genetics of Laryngeal Dystonia

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Imaging Genetics of Laryngeal Dystonia

Quick Facts

Study Start:2017-01-23
Study Completion:2027-07-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03042975

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Males and females of diverse racial and ethnic background, with age across the lifespan;
  2. 2. Laryngeal Dystonia patients
  3. * phenotype: adductor or abductor
  4. * genotype: familial or sporadic
  5. 3. Voice Tremor patients
  6. * essential or
  7. * dystonic
  8. 4. Muscle tension dysphonia patients
  9. 5. Unaffected relatives of laryngeal dystonia patients with
  10. * familial laryngeal dystonia
  11. * early-onset laryngeal dystonia (onset at ≤ 35 y.o.)
  12. * typical onset laryngeal dystonia (onset at ≥ 40 y.o.)
  13. 6. Native English speakers.
  14. 7. Right-handedness.
  15. 8. Normal cognitive status.
  1. 1. Subjects who are incapable of giving informed consent.
  2. 2. Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding.
  3. 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. 4. Patients who are not symptomatic due to treatment with botulinum toxin injections into the laryngeal muscles.
  5. 5. Subjects who receive medication(s) affecting the central nervous system.
  6. 6. Subjects with a history of major brain and/or laryngeal surgery.
  7. 7. Subjects who have tattoos, ferromagnetic objects in their bodies that cannot be removed for imaging study participation.

Contacts and Locations

Study Contact

Kristina Simonyan, MD, PhD
CONTACT
617-573-6016
Simonyan_Lab@MEEI.HARVARD.EDU

Principal Investigator

Kristina Simonyan, MD, PhD
PRINCIPAL_INVESTIGATOR
Massachusetts Eye and Ear Infirmary

Study Locations (Sites)

Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114
United States

Collaborators and Investigators

Sponsor: Kristina Simonyan

  • Kristina Simonyan, MD, PhD, PRINCIPAL_INVESTIGATOR, Massachusetts Eye and Ear Infirmary

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2017-01-23
Study Completion Date2027-07-31

Study Record Updates

Study Start Date2017-01-23
Study Completion Date2027-07-31

Terms related to this study

Keywords Provided by Researchers

  • dystonia
  • spasmodic dysphonia
  • imaging
  • genetics

Additional Relevant MeSH Terms

  • Laryngeal Dystonia
  • Unaffected Relatives of Laryngeal Dystonia Patients
  • Voice Tremor
  • Muscle Tension Dysphonia