Frequently Asked Questions

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.

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)
  

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.”

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

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

• University of California Davis
• University of Miami
  
• Wake Forest University

• Harvard University
  

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

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
  

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

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

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

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.

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