Imaging Genetics for Spasmodic Dysphonia

Overseen By Kristina Simonyan, MD, PhD

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Kristina Simonyan

Must not be taking: CNS medications

Disqualifiers: Stroke, Schizophrenia, Alcoholism, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

410 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to explore how genetic factors might influence brain changes in individuals with laryngeal dystonia, a voice disorder. Researchers will use brain imaging (MRI) and blood tests to examine the link between genetics and the brain's role in this condition. The study includes several groups: those with laryngeal dystonia, voice tremors, muscle tension dysphonia, and relatives of those with laryngeal dystonia. Individuals with laryngeal dystonia or similar voice issues, such as frequent voice tremors or muscle tension, may qualify, along with their unaffected relatives.

As an unphased trial, this study offers a unique opportunity to contribute to groundbreaking research that could lead to a better understanding and treatment of voice disorders.

Will I have to stop taking my current medications?

The trial excludes people who are taking medications that affect the central nervous system, so you may need to stop taking such medications to participate.

What prior data suggests that this study's methods are safe?

Research shows that MRIs and blood tests are generally safe and easy to manage. Studies have found that MRIs, which take detailed pictures of the brain, are non-invasive and don't use radiation. Most people experience no side effects, though some might feel cramped inside the machine.

Those who have had blood tests usually report only a small pinch at the needle site. Rarely, some might experience slight bruising or feel a bit dizzy afterward.

These procedures are common in medical settings and are considered low risk, with serious problems being very rare. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it's exploring the genetic and brain imaging aspects of laryngeal dystonia, a voice disorder that's typically treated with botulinum toxin injections or voice therapy. Unlike straightforward treatments, this study aims to uncover the underlying genetic factors and brain differences in patients with laryngeal dystonia and related conditions. By using MRI and blood draws, the trial might reveal new insights that could lead to more targeted and effective therapies in the future. This approach is unique because it's not just about treating symptoms but understanding the root causes of the disorder.

Who Is on the Research Team?

Kristina Simonyan, MD, PhD

Principal Investigator

Massachusetts Eye and Ear Infirmary

Are You a Good Fit for This Trial?

Inclusion Criteria

Males and females of diverse racial and ethnic background, with age across the lifespan;

Laryngeal Dystonia patients

phenotype: adductor or abductor genotype: familial or sporadic

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Imaging and Genetic Testing

Participants undergo MRI of the brain and a blood draw for genetic testing

5 years

Multiple visits as required for imaging and testing

Follow-up

Participants are monitored for safety and effectiveness after imaging and genetic testing

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Blood draw
• MRI

How Is the Trial Designed?

Group I: Voice tremor Experimental Treatment 2 Interventions

Patients with voice tremor will undergo an MRI of the brain and a blood draw.

Group II: Unaffected relatives of laryngeal dystonia patients Experimental Treatment 2 Interventions

Unaffected relatives of patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.

Group III: Muscle tension dysphonia Experimental Treatment 2 Interventions

Patients with muscle tension dysphonia will undergo an MRI of the brain and a blood draw.

Group IV: Laryngeal Dystonia Experimental Treatment 2 Interventions

Patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.

Who Is Running the Clinical Trial?

Kristina Simonyan

Lead Sponsor

Trials

4

Recruited

740+

National Institute on Deafness and Other Communication Disorders (NIDCD)

Collaborator

Trials

377

Recruited

190,000+

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT01961297

NCT01961297 | Voice Tremor in Spasmodic Dysphonia: ... The proposed research aims to determine brain abnormalities in patients with spasmodic dysphonia (SD) and voice tremor (VT) as the basis for characterization ...

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC2643054/

Research Priorities in Spasmodic Dysphonia - PMC To identify research priorities for increasing understanding of the pathogenesis, diagnosis and improved treatment of spasmodic dysphonia.

3. medlink.com medlink.com/articles/spasmodic-dysphonia

Laryngeal dystonia (spasmodic dysphonia) Focal vocal cord spasms causing strained or breathy speech during speaking. More common in women, diagnosed through voice evaluation and endoscopy.

4. my.clevelandclinic.org my.clevelandclinic.org/health/diseases/21838-spasmodic-dysphonia

Spasmodic Dysphonia: Types, Symptoms & Treatment Spasmodic dysphonia is a rare speech disorder. It affects how your voice sounds, making it harder to speak. There's no cure, but there are treatments.

5. emedicine.medscape.com emedicine.medscape.com/article/864079-overview

Spasmodic Dysphonia: Practice Essentials, History ... Spasmodic dysphonia (SD) is a chronic voice disorder of unknown origin that is characterized by excessive or inappropriate contraction of laryngeal muscles ...