Frequently Asked Questions

A physician stands in a clinical setting.

Have questions? You can depend on us for thorough answers. Be sure you’re aware of all key information about our study before you decide whether to take part in it.

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.

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What is a clinical research study?

A clinical research study is a systematic way of finding answers to difficult scientific or health questions. For example, doctors may do a research study to learn about symptoms related to a disorder.

Clinical research follows pre-defined protocols, which are detailed plans for conducting the study. Clinical studies are strictly regulated by the federal government.

What are ATP1A3-related disorders?

Variants in the ATP1A3 gene are known to cause these neurologic disorders:

  • rapid-onset dystonia-parkinsonism (RDP)
  • alternating hemiplegia of childhood (ACH)
  • cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS)

What is this clinical study and its purpose?

This study is recruiting patients who have ATP1A3 gene variants. 

One goal of our study is to more clearly identify the characteristics associated with RDP, AHC and CAPOS.  We also aim to explore whether variants in the ATP1A3 gene are linked with dystonias, Parkinson’s disease and other movement disorders.

The results of the study may help doctors to better diagnose RDP and other movement disorders — and develop improved treatments.

The full title of the study is: “Longitudinal Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia-Parkinsonism and Other Movement Disorders.”

Who is funding this study?

This study is funded by the National Institutes of Health, particularly the National Institute of Neurological Disorders and Stroke.

Is this study being conducted anywhere else?

There are other universities participating in this study in conjunction with the University at Buffalo. These sites include:

Why do people volunteer for research?

Patients who participate in research enable clinical staff to be better informed about their condition, medical care and treatment.

Some of the common reasons for participating in research are that participants in a clinical study:

  • feel empowered over their health care
  • help increase knowledge about treating ATP1A3-related disorders, which can only be discovered in studies such as this

Who may be eligible to participate in our clinical research?

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

You may be eligible to participate in this clinical study if you: 

  • have a known/suspected ATP1A3 gene variants or have been identified as a carrier/family member of someone with an ATP1A3 gene variant
  • were previously enrolled in an earlier version of this study
  • have access to WiFi and a laptop, desktop computer or tablet

Will I have to pay anything?

No. There is no charge to participate in this study.

If I volunteer, what exactly will I be doing?

Participation involves several telemedicine (remote) sessions within a two-year period.

During these sessions, the following routine medical procedures will occur:

  • blood or saliva collection (the study team will help facilitate this remotely)
  • physical and neurological exams
  • video recording and photographs of movement tests
  • questionnaires and ratings by the study doctor
  • your completion of surveys

If I volunteer, is there any way I can change my mind later?

Yes. Although it is preferred that volunteers are committed to completing the study, volunteers are free to withdraw at any time.

Will my participation be kept confidential?

Yes, your anonymity will be protected within the limits of the law. No medical information will be released to outside individuals without your written permission. No names are given when reports on research are made to the scientific community.

How do I become a participant in this study?

If you think you might be eligible for this study, please contact us now.