Dystonia Clinical Trials 2023

What Are Dystonia Clinical Trials?

Dystonia clinical trials aim to find alternative treatments for Dystonia and novel drugs designed specifically to treat Dystonia. Currently, treatments address symptoms but not the disease itself. Large-scale pooling of data is another area of focus with a need for collaboration on data generation.

Aside from developing drugs to treat Dystonia, research is underway to test non-invasive therapies such as transcranial magnetic stimulation to treat symptoms, providing long-term relief.

Further to this, several trials are underway to determine the role of genetics in Dystonia and examine the cell makeup of patients with the disease.

Why Is Dystonia Being Studied Through Clinical Trials?

Dystonia is a disease where muscle spasms occur involuntarily. This disease manifests as repetitive muscle twitches.

The symptoms of dystonia range from mild to extremely severe, where normal day-to-day functioning is hampered. Dystonia spasms can cause severe pain.

Dystonia affects different parts of the body, and not all patients experience the same effects of Dystonia. Symptoms intensify as the disease progresses, and stress affects the intensity of symptoms.

The different areas Dystonia affects are:

• The voice box – causing a husky voice or whispered voice
• The neck - resulting in severe twists and spasms
• The tongue - affecting speech, causing trouble chewing and drooling
• Eyelids - causing rapid blinking and resulting in pain and sensitivity to light
• Arms and hands - where symptoms are often only noticeable when a patient does repetitive activities like writing
• Depression and anxiety – causing social withdrawal

Dystonia is broken down into different categories:

• Generalized Dystonia refers to Dystonia affecting all or most parts of the body.
• Focal Dystonia is specific to a single targeted part of the body.
• Multifocal Dystonia relates to more than one unrelated part of the body being affected.
• Segmental Dystonia refers to more than one related body part affected.
• Hemidystonia affects limbs on either the left side or the right hand side of the body.

What Are The Treatments Available For Dystonia?

Although Dystonia isn't curable, it is treatable, and treatments focus on managing symptoms or blocking various neurotransmitters.

The following treatments have proven to offer relief to Dystonia patients:

• Botulinum Toxin (Botox) effectively treats focal Dystonia by preventing muscle spasms.
• Anticholinergic agents such as trihexyphenidyl and benztropine block the effects of acetylcholine, a neurotransmitter.
• GABAergic agents fall into the category of benzodiazepines blocking the GABA neurotransmitter.
• Dopaminergic agents work on Dopamine in the human body and effectively treat muscle spasms, particularly in children.
• Deep brain stimulation (DBS) is a surgical treatment that inserts small electrodes into areas of the brain that affect movement. This treatment is reserved for patients who experience no relief from medication.
• Various other invasive surgeries are directed at damaging small parts of the brain or cutting deep nerves in the neck where the active spasms occur. Patients have reported success with these surgeries.
• Other therapies include speech/voice therapy, physical therapy, and stress management.

What Are Some Recent Breakthrough Clinical Trials For Dystonia?

2023: New Botulinum toxin A Formulation, which requires treatment in the form of injection every three months, has successfully helped Dystonia patients control muscle spasms. The key benefit of this treatment is that it provides long-term relief that previous Botulinum treatments.

2021: Non-invasive Stimulation in Cervical Dystonia involves non-surgical treatment for patients with Transcranial Direct Current Stimulation (tDCS) or transcranial pulsed current stimulation (tPCS). This treatment is safe and has shown little to no side effects when used as a complementary treatment to minimize the symptoms of Dystonia.

Who Are Some Of The Key Opinion Leaders In Dystonia Clinical Trial Research?

Dr. Laurie Jean Ozelius, an associate professor of neurology at the Harvard Medical School and an associate investigator at Mass General Research Institute, focuses on genetics affecting Dystonia and Parkinson's Disease patients. Her research is around isolating genes that result in the onset of Dystonia.

Dr. Joel S. Perlmutter MD. has a neurological practice in Saint Louis, Missouri, and works with various hospitals in the area, which include Barnes-Jewish Hospital. He studied medicine at the University of Missouri-Columbia School of Medicine and has worked for over 20 years diagnosing and treating neurological muscle disease, which includes Dystonia.