Clinical Research: ATP1A3-Related Disorders

Allison Brashear holds a painting created by a former patient.

Principal investigator on the study, Allison Brashear, MD, MBA, holds artwork by a former patient who was grateful for Brashear’s research and dedication to expanding knowledge about ATP1A3-related movement disorders.

Clinical research like ours is an important and necessary part of finding new treatments and more ways to diagnose conditions and diseases.

Have you been diagnosed with rapid-onset dystonia-parkinsonism (RDP), the rare movement disorder, or other ATP1A3-related movement disorders?

Are you interested in helping researchers learn more about these conditions?

Our study is recruiting patients diagnosed with RDP and those who have ATP1A3 gene variants, including alternating hemiplegia of childhood (AHC) and CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome.

Take an In-Depth Look at Our Clinical Study

  • Frequently Asked Questions
    5/6/23
    Participating in clinical research is an important decision. You should know how the study is being conducted and what your rights are as a research participant. That’s why we aim to equip you with as much knowledge about our study as possible.
  • What Are ATP1A3-Related Disorders?
    2/21/23
    What do we mean when we say we study ATP1A3-related disorders? Well, we’re taking a deep dive into how disease-causing variants of the ATP1A3 gene cause a variety of movement disorders.
  • Research Team
    8/15/24
    Our trusted team of renowned medical experts is committed to expanding the world’s understanding of ATP1A3-related disorders. Meet our researchers.
  • Why Participate?
    2/21/23
    There are multiple reasons you may want to participate. But it’s crucial that you feel comfortable with all the details about our ATP1A3-related study before you decide to get involved.
  • Contact Us
    7/11/23
    If you think you might be eligible for our study on ATP1A3-related movement disorders, please contact us. Also, follow us on social media to stay abreast of our latest updates.

News Articles: Our Research

National Study Seeks Patients With ATP1A3 Mutations
2/27/23

Imagine waking up one day and finding that you are suddenly having difficulty swallowing, walking and talking. You start experiencing involuntary muscle contractions called dystonias. Then imagine that these symptoms do not go away.

Rare Disease Research to Be Showcased at Virtual Event
2/15/23

Researchers at the University at Buffalo are hard at work studying rare diseases and caring for the many patients suffering from them. UB will hold an event recognizing rare disease patients, their clinicians and the researchers working to discover causes — and ultimately cures — for these conditions.

Brashear Appointed to the AAMC Board of Directors
6/28/24

Allison Brashear, MD, vice president for health sciences and dean of the Jacobs School, has been appointed to the board of directors of the Association for American Medical Colleges (AAMC). 

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Key Videos to Watch

What is a clinical study?

Thumbnail: What is a clinical trial

What is a rare disease?

Thumbnail: What is a rare disease?

Should I Participate?

Thumbnail: Should I participate in a clinical trial

Do You Qualify for Our Study?

Specific criteria have been established to determine who is eligible to participate in this research study:

Learn more about your eligibility

Related Resources

Be an Informed Participant

Before deciding to join a research study, take the time to learn about it. You should know as much as possible about the study.

Dystonia Medical Research Foundation

Watch a Webinar: Rapid-Onset Dystonia Parkinsonism Overview

Learn about rapid-onset dystonia parkinsonism from a panel of experts — Allison Brashear, MD, MBA; Laurie Jean Ozelius, PhD; Kathleen J. Sweadner, PhD — hosted by the Dystonia Medical Research Foundation.

National Institutes of Health

What is RDP?

The National Center for Advancing Translational Sciences defines Rapid-onset dystonia-parkinsonism, describes how to get a diagnosis and discusses how it can feel to live with this rare disease.

What is CAPOS?

Learn more about this syndrome that typically begins after a fever-related illness with a sudden episode of ataxia, such as having a hard time walking or coordinating leg or arm movements. Pregnancy and delivery may also trigger episodes.

What is AHC?

Get all the details about a neurological disorder that usually affects children before 18 months of age.