Study for Patients with RDP (Rapid-Onset Dystonia-Parkinsonism)
Longitudinal Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia-Parkinsonism and Other Movement Disorders
This study is recruiting patients diagnosed with rapid-onset dystonia-parkinsonism (RDP). RDP is a rare movement disorder. It has symptoms of both dystonia (lasting muscle contractions) and Parkinson’s Disease (presence of tremor in one hand and a stiffness or slowing of movement). Patients may develop RDP suddenly or gradually over time.
This multi-site study includes the University of Buffalo (NY), University of California Davis (CA), and University of Miami (FL). One study goal is to more clearly identify the characteristics associated with RDP. A second study goal is to explore whether mutations in the RDP 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 develop improved treatments.
Participation involves two telemedicine (remote) visits spaced two years (24 months) apart. During these study visits, the following routine medical procedures will occur: blood or saliva collection; physical and neurological exams; video recording and photographs of movement tests; questionnaires and ratings by the study doctor; and participant completion of surveys.
The purpose of this study is to expand the breadth and reach of ATP1A3 phenotyping, using diagnostic tools to detect ATP1A3-related disease and measure changes over time, necessary for designing treatment trials.
1) Patients with known/suspected RDP gene mutation OR those who have been identified as carriers/family members of someone with an RDP gene mutation
2)Patients who were previously enrolled in an earlier version of this study
3) 18 months of age or older
4) Access to Wi-Fi and a smart device (for example, a smartphone, laptop, tablet)
Let us know how the study team can reach you. If you do not hear back within 2 business days, reach out to the study team directly at the
contact information above or email firstname.lastname@example.org and someone will assist you.
Your information will be shared only with the research study team for recruitment purposes and designated CTSI personnel for project quality
assurance and will remain confidential. Your information will be stored indefinitely. Should you no longer want this information to be provided
in the aforementioned ways, please contact email@example.com.