Search clinical trials by condition, location and status
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative's goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy. Addressing challenges in rare disease research -such as small, geographically dispersed patient populations and a lack of standardized protocols- the study employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society. This survey seeks to collect comprehensive data on clinical features, disease progression, age of onset, genetic variants, and concurrent neurological conditions, standardizing data collection across countries to provide a unified understanding of these conditions. Through retrospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative\'s goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.
This study will evaluate the efficacy of valbenazine on clinician- and patient-reported outcomes in participants with TD while receiving or after stopping a VMAT2 inhibitor.
The study is being conducted to validate the feasibility of remote assessment of Tardive Dyskinesia.
this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition. One purpose of this study is to measure the level of nitric oxide in the nasal passages and examine how often the results correlate with other tests currently done to make the diagnosis.
The purpose of this study is to determine the effect of a dietary supplement rich in nitric oxide (NO) on nasal nitric oxide and fractional exhaled nitric oxide (FeNO),on ciliary beat frequency assessed by high-speed digital video microscopy and on lung function assessed by spirometry in normal patients and patients with Primary ciliary dyskinesia (PCD).
The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect ciliary function and cause primary ciliary dyskinesia (PCD), which results in life-shortening lung disease. The long-term goal of this project is to develop better understanding of the underlying genetic variability that adversely modifies ciliary function, and predisposes to common airway diseases, such as asthma and chronic obstructive pulmonary disease.
This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Individuals with PCD characteristically have low levels, but this testing does not have extensive data from everyday clinical practice. The objective of this proposal is to improve the diagnostic approach to children and adults with clinical concerns for primary ciliary dyskinesia (PCD).
This is a study evaluating the utility of current Primary Ciliary Dyskinesia (PCD) diagnostic tests, including nasal nitric oxide testing.
The objective of this research is to use advanced connectomic imaging models to identify disease-relevant axonal pathway targets for better tremor control in Parkinson's disease patients while avoiding undesirable side effects, with the goal of increasing precision and facilitating the choice of optimal DBS parameters for certain disease phenotypes. The investigators hypothesize that patient centered subthalamic nucleus deep brain stimulation of cerebellothalamic axonal pathways and pallidothalamic tract activation can provide better tremor control while avoiding worsening dyskinesias in patients with Parkinson's disease with significant tremor.