Why Participate?
Many of today’s medical advances came about because people volunteered to participate in clinical research. If you choose to join our research study, your participation would occur via telemedicine.
There are multiple reasons you may want to participate. But it’s crucial that you feel comfortable with all the details about our ATP1A3-disorders research before you decide to get involved.
ATP1A3-Related Disorders Are Rare and Can Be Debilitating
According to the National Center for Advancing Translational Sciences, in the United States there are fewer than:
- 1,000 people with rapid-onset dystonia-parkinsonism (RDP)
- 5,000 with alternating hemiplegia of childhood (AHC)
- 1,000 people with cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS)
If you have been diagnosed with any of these disorders — or if you have been identified as a carrier or family member of someone with an ATP1A3 gene variant — partaking in this study could be a unique chance for you to help further the understanding of these disorders and possibly lessen suffering for future generations.
Your Participation Might Contribute to Medical Advances
Because RDP, AHC and CAPOS are rare disorders, physicians and scientists have limited information about it.
If you participate in our clinical study, the results may help physicians better diagnose these disorders and develop improved treatments.
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.
By signing up to participate, you may help us achieve these goals.
Sessions Are Remote, Via Telemedicine
If you decide to join our clinical study, your participation would involve several telemedicine sessions within a two-year period.
Telemedicine enables you to interact with a researcher on a desktop computer, tablet or laptop.
During these study visits, routine medical procedures would occur:
- blood or saliva collection (the study team will 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