Open-Label Extension Study of ASTORIA
DyskinesiasThis current open-label extension (OLE) study (JM-010CS-OL) will explore the safety and tolerability of long-term administration of JM-010 of patients who completed 12-week treatment of Phase 2 (JM-010CS03) study.
Swiss Primary Ciliary Dyskinesia Registry
Primary Ciliary DyskinesiaKartagener SyndromeThe Swiss Primary Ciliary Dyskinesia (PCD) Registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzerland and provides data for national and international monitoring and research.
Analysis of the Molecular Composition of Tubal Cilia in Patients With or Without Ectopic Pregnancy...
SalpingectomyHysterectomy2 morePrimary Ciliary Dyskinesia associated with abnormalities of lateralization of organs (with existence of a situs inversus in 50% of cases) and secondary fertility disorders related in humans to abnormalities of mobility of sperm but very little data on the structure and function of tubal cilia in women
Investigation of Immediate Efficacy of Kinesiology Taping in Individuals With Scapular Dyskinesia...
Scapular DyskinesisShoulder protraction is the forward tilt of the head with hyperextension of the cervical spine and is associated with lengthening of the sternocleidomastoid and scalene muscles. With the lengthening of the flexor muscles, the weakened and shortened trapezius, levator scapula, and serratus anterior muscles lead to extra flexor torque and sustained contraction.
International Primary Ciliary Dyskinesia Cohort
Primary Ciliary DyskinesiaKartagener SyndromeThe iPCD Cohort is an international cohort that assembles available retrospective datasets and prospectively newly collected clinical and diagnostic data from patients suffering from primary ciliary dyskinesia (PCD) worldwide, to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments in patients with this rare multiorgan disease.
Genotype/Phenotype Correlation With Focus on Lung Function in Primary Ciliary Dyskinesia (PCD)
Ciliary Motility DisordersPrimary Ciliary DyskinesiaPrimary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis in about 50% of cases) and fertility problems. At present, mutations in > 45 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases. Aim of this study are: Correlation between genotype and lung function of patients with genetically confirmed PCD in an international cohort on a longitudinal basis Determination of further parameters, such as body mass index (BMI), possibly associated with lung function in genetically confirmed PCD patients
AV-101 (L-4-chlorokynurenine) in Parkinson's Disease Subjects With Levodopa-Induced Dyskinesia
Parkinson DiseaseDyskinesia2 moreThis is a randomized, double-blind, placebo-controlled, crossover, proof-of-concept Phase 2 study to test efficacy and safety of AV-101 (L-4-chlorokynurenine) in Parkinson's Disease subjects with levodopa-induced dyskinesia. The trial will be conducted in two treatment periods, in which each treatment period will consist of 14 days. The two treatment periods will be separated by a 1-week washout period. During the first treatment period, subjects meeting all eligibility criteria will be randomly assigned to receive either 1440 mg AV-101 or placebo in a 1:1 ratio. AV-101 or placebo will be administered BID for 14 days (every 12 hours). After the washout period, all subjects will be crossed over to receive the alternate treatment during the second treatment period (14-day period). On the last day of each treatment period (Visit 4 [Day 14] and Visit 7 [Day35]), subjects will be assessed in clinic while in the practically "off" state and will receive the morning dose of the study drug at the clinic. This will be followed, within 25-30 minutes, by oral administration of a dose of levodopa that is 150% of the subject's normal dose. Assessments of dyskinesia and PD motor symptoms will be performed before and after levodopa/carbidopa administration.
Preventing Levodopa Induced Dyskinesia in Parkinson's Disease With HMG-CoA Reductase Inhibitors...
Parkinson DiseaseDyskinesia1 moreIn this study, the investigators will examine the association of statin use and dyskinesia in a convenience sample Parkinson's disease patients in the Veterans Administration Health Care System.
Utility of PCD Diagnostics to Improve Clinical Care
Primary Ciliary DyskinesiaThis 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).
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary...
Primary Ciliary DyskinesiaKartagener SyndromeThe overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults with primary ciliary dyskinesia (PCD).