Active clinical trials for "Parkinson Disease"

Besides Parkinson's disease (PD), it exists rare parkinsonian syndromes clinically close to PD and that correspond to Mendelian entities. Autosomal dominant forms are mainly associated with mutations of alpha synuclein and LRRK2/dardarin genes, whereas autosomal recessive forms are due to mutations in Parkin, Pink1 and DJ-1 genes. This entities are still unknown on the clinical, genetic and metabolic " au plan ". Throughout a national network of 15 specialized centres in movement disorders, coordinated by the team of the neurogenetics reference centre at the Pitié-Salpêtrière Hospital (Alexis Brice), we propose to precise the relative frequency, the molecular bases and abnormalities in functional neuroimaging associated with the LRRK2 gene mutations, the most frequently implicated in the autosomal dominant forms. Due to the relative rarity of this parkinsonian syndrome, we will perform at the same time a retrospective study in cases and families already collected by the national network (300 isolated cases and 300 families) and a prospective study. The network will recruit 100 isolated cases and 40 familial cases yearly, with precise diagnosis tools. The genetic analysis will evaluate the relative frequency of the LRRK2 mutations and their spectrum in the French population. Phenotype-genotype correlations will be performed to better orientate the molecular diagnosis, in order to improve the genetic counselling and reduce costs of these analyses. In the case of LRRK2 mutations, a genetic investigation will be proposed to the families, with a specific care to at-risk cases. A detailed phenotypic evaluation of patients and at-risk cases will be proposed (neurological, neuropsychiatric and behavioural) at the CIC Pitié-Salpêtrière and also in imaging, for 15 patients and 40 of their relatives (20 carriers and 20 non-carriers of the LRRK2 mutation). The TEP study will evaluate the dopaminergic function (fluorodopa capture) and will measure the dopamine transporter (DAT). The structural MRI evaluation will search for possible associated structural morphologic abnormalities. The functional MRI evaluation will search for dysfunction of motor circuit during the movement realisation. These examinations will be performed at two years of interval for appreciate the evolution of the disease. This study will allow to better characterize the parkinsonian syndromes due to LRRK2 mutations and also to better characterize the presymptomatic phase, which is subject to controversies in idiopathic PD. The feasibility of this project is assured by the expertise of the collaborative centres and by the inclusion of a retrospective cohort, combined to a prospective cohort, which will allow to recruit sufficient patients and at-risk relatives for a rare genetic entity.

The specific aim of this study is to investigate rod, cone and melanopsin driven pupillary light response in individuals with progressive supranuclear palsy (PSP), age-matched healthy controls and individuals with other neurodegenerative diseases using chromatic pupillometry, with special interest in assessing melanopsin-driven post-illumination pupil response (PIPR) as an identifier for PSP. The study addresses the following hypotheses: Chromatic pupil responses, including rod/cone-driven rapid phase constriction and melanopsin-driven PIPR, are reduced in subjects with PSP compared to age-matched normal healthy control subjects, Pupil parameters of the melanopsin-driven PIPR are abnormal in PSP subjects without supranuclear palsy, which is indicative of a subclinical physiological deficit of the OPN in the early stages of PSP. If these hypotheses are upheld, chromatic pupillometry to measure the PIPR promises to be a reliable in vivo, non-invasive, convenient and inexpensive technique to detect asymptomatic pupillomotor impairment in advance of diagnostic oculomotor signs and deterioration of cognitive function.

The bone loss in Parkinson's disease (PD) emerges as a non-motor symptom with motor and non-motor outcomes, such as fracture and musculoskeletal pain. Bone mineral density (BMD) is decreasing in patients with PD when compared to sex and age-matched healthy controls. The changes in BMD according to clinical subtypes of PD is unknown. The investigators are planning to compare the BMD status between the tremor dominant and postural instability and gait difficulty type of PD.

This study evaluates metabolic and functional parameters in the skeletal muscle of Parkinson's disease patients for comparison to a set of healthy age-matched controls.

This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding Parkinson's Disease.

We recruited 116 patients with idiopathic PD who were from the Neurology clinic of the Second Affiliated Hospital of Zhejiang University, School of Medicine from January 2014 to November 2014. Perform videofluroscopic swallowing study and psychiatric and neurological evaluations and followed up after 6 years.

This study used Mini Nutrition Assessment (MNA) , Nutrition risk screening 2002(NRS-2002) and Non-motor Symptom Quest (NMSquest) to investigate the nutritional status of patients with Parkinson's disease, to analyze the correlation between non-motor symptoms and malnutrition in patients with Parkinson's disease (PD) , and to provide evidence for clinical treatment and early nutritional intervention.

Parkinson Disease is one of the most common neurodegenerative illnesses. First degree relatives of Parkinson patient are in high risk for developing the disease. We will try to detect early changes in brain metabolism before the appearance of Parkinson symptoms. Participants: first degree relatives of diagnosed Parkinson patients that carry a gene mutation in either LRRK2 or GBA genes. The examination results will be given to the participants by a doctor from the neurology department.

To date except for the larger striato-pallidal complex, there are no reliable imaging markers of small deep nuclei. Major improvement of the spatial resolution resulting from the use of ultra-high field MRI systems offers new perspectives of imaging of these deep structures. We will use the new contrast mechanisms available in data acquired with ultra-high field MR systems (7T) as well as the most recent high angular diffusion imaging techniques in order to characterize the cytoarchitectonics of the deep brain structures and brainstem lesions in parkinsonian syndromes (with special interest in substantia nigra (SN) pathology and nigro-striatal fiber pathways; subthalamic nucleus (STN), red nucleus (RN), oculomotor structures (involved in PSP); pedonculo-pontine nucleus (involved in gait and posture control disorders) and the locus sub-coeruleus area (implicated in sleep disorders) The optimized MR sequences at 7T will be adapted and validated at 3T (on a more clinically oriented MRI approach). The clinical goal of the project (via the characterization of deep brain structures) is the detection of new neuroimaging markers of neuronal lesions in PD. These biomarkers will be used to create a diagnostic tool at early stage of the disease that could be correlated to clinical signs such as gait disorders and help to identify predictive factors. In addition, this could contribute to establish an adequate therapeutic strategy (as for example with deep brain stimulation).

Parkinson's disease (PD) is the second most frequent neurodegenerative disorder after Alzheimer's disease. It causes motor dysfunctions, such as bradykinesia, resting tremor, rigidity and postural instability. Although PD appears to be sporadic in most cases, several causative genes and susceptibility factors have been identified that cause familial forms of the disease with Mendelian inheritance with autosomal dominant or autosomal recessive inheritance. Approximately 5~10% of patients with the clinical picture of PD carry a mutation in one of the known genes that cause monogenic forms of the disorder. The average age at onset is between 60 and 80 years and the average age of diagnosis is 60 years. Onset of primary parkinsonism before 50 years is known as early onset parkinsonism(EOP). Onset between 20 and 50 years is known as young-onset PD. Onset at younger than 20 years is known as juvenile parkinsonism (JP). At least, 13 loci and 9 genes are reported. The investigators study is aimed to screen the clinical diagnosed familial EOP for the common mutation site by PCR/DNA sequencing. The gene for screen are Parkin (pattern: PARK2), PINK1 (pattern: PARK6) and ATP13A2 (pattern: PARK9).