Brain imaging and genes in laryngeal dystonia and related voice disorders

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with laryngeal dystonia (spasmodic dysphonia), voice tremor or muscle tension dysphonia, and unaffected relatives of laryngeal dystonia patients. Everyone has a brain MRI and a blood draw.

Age

All ages across the lifespan.

Sex

Males and females can join.

Disease stage

Laryngeal dystonia of the adductor or abductor type, familial or sporadic. Voice tremor that is essential or dystonic. Muscle tension dysphonia. Relatives can join if the patient in the family has familial, early-onset (onset at ≤ 35 y.o.) or typical onset (onset at ≥ 40 y.o.) laryngeal dystonia. People must be native English speakers, right-handed, with normal thinking and memory.

Earlier treatment

Patients whose symptoms are gone because of botulinum toxin injections into the voice box muscles cannot join. People taking medicines that affect the brain and nerves cannot join.

Main reasons for not taking part

• Pregnant or breastfeeding women, until they are no longer pregnant or breastfeeding.
• Past or present major brain or nerve problems, such as stroke, brain tumors or other movement disorders, or alcohol or drug dependence.
• Psychiatric problems such as schizophrenia, bipolar depression or obsessive-compulsive disorder, or other voice box problems such as vocal fold paralysis, nodules, polyps or cancer.
• Past major brain or voice box surgery.
• Tattoos or metal objects in the body that cannot be removed for MRI.

The registry criteria, word for word

What the trial wants to find out

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.

The 4 groups in the trial

• Laryngeal Dystonia

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

  Treatment: MRI and Blood draw

• Unaffected relatives of laryngeal dystonia patients

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

  Treatment: MRI and Blood draw

• Voice tremor

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

  Treatment: MRI and Blood draw

• Muscle tension dysphonia

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

  Treatment: MRI and Blood draw