View clinical trials related to Disease Susceptibility.
Filter by:Cerebral cavernous malformation (CCM)-related epilepsy (CRE) impairs the quality of life in patients with CCM. Patients could not always achieve seizure freedom after surgical resection of the lesion, suggesting an inadequate treatment and evaluation of the epileptogenic zone or network. Iron deposition in cerebral cavernous malformations has been postulated to play an important role in triggering CRE. Quantitative susceptibility mapping (QSM), as an optimal in vivo imaging technique to quantify iron deposition, is employed to analyze the iron quantity in CCM patients with epilepsy and further combined with brain structural and connectome analysis, to describe the difference between CCMs with and without epilepsy. In vivo biomarkers predicting CRE risk in CCM natural history and CRE control outcome after CCM surgical resection will be further identified to improve management strategy.
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or re-analysed using existing datasets. Phenotype and omics data will be shared within the University Hospital Tübingen and with external collaborators to improve the diagnostic rate of the subjects included in the study.
Schizophrenia (Schizophrenia,Sc), biphasic affective disorder (Bipolar disorder,BPD), major depression (major depressive disorder,MDD), anxiety disorder (Anxiety disorder,An) and other mental disorders have obvious family aggregation, with heritability of 60 -90%. This kind of common mental illness seriously affects the psychosomatic health and quality of life of patients, and places a great mental and economic burden on the society and family. At present, the diagnosis of mental illness is mainly based on clinical symptoms. With the development of molecular biology, genomics has become a new way to study mental illness. MicroRNA (miRNA) is a class of eukaryotic endogenously non-coding single-stranded RNA, which can regulate gene expression by binding to specific mRNA or regulating the protein translation process of specific mRNA. MiRNA widely exists in plasma and serum, and the type and quantity of miRNA in plasma and serum change with different physiological and disease conditions. It is reported that the expression profile of miRNA in brain tissue of schizophrenia is significantly different from that of normal subjects. In addition, the study found that the specific miRNA detected in peripheral blood can directly reflect the condition of the disease, which may use miRNA in peripheral blood as a clinical biological marker. In order to detect the expression of various miRNA in plasma, high throughput miRNA chip detection has become the first choice for primary screening. In this study, the investigators intend to detect the difference of miRNA expression in peripheral blood of different types of schizophrenia by high throughput miRNA chip, and analyze the correlation between them. It is hoped to provide the basis for the diagnosis and occurrence and development of clinical psychotic patients.
This study will assess the hereditary component of pancreatic cancer in the largest series of patients up to date through the parallel analysis of 62 cancer-associated genes. The investigators will obtain germline DNA from blood samples that have been collected from 2000 to 2019 from patients with pancreatic cancer. The investigators plan to analyze germline DNA for mutations and single nucleotide polymorphisms (SNPs) in genes that have been previously linked to a predisposition towards cancer. The outcome can provide useful insight on the overall understanding of pancreatic pathogenesis while possible associations with age of diagnosis, tumor stage and other cancer types might arise. In addition to that, it can lead to the characterization of new variants or even new genes that predispose to pancreatic cancer. Confirmed deleterious mutations in established cancer genes can provide valuable clinical information that can lead to effective, individualized patient management. Furthermore, family relatives of the individuals found to carry mutations can also benefit from established screening protocols for various cancer types, such as frequent colonoscopies in the case of an MMR mutation predisposing for Lynch syndrome, or preventative surgeries in the case of a deleterious BRCA1 or BRCA2 mutation. In addition to that, specific therapies that have been previously shown to be effective in breast or ovarian cancer patients with BRCA1 & BRCA2 mutations, such as platinum-based chemotherapy and PARP inhibitors can be also effective in mutations carriers with pancreatic cancer.
To evaluate the gender-related elements, a first step will be to analyze the impact of sex ratio on different parameters such as age in endocarditis and the type of underlying valvulopathy and other associated comorbidities.
Ceftolozane/tazobactam is a new antibiotic with broad spectrum activity. This molecule is currently one of the most active beta lactams against Pseudomonas aeruginosa and its spectrum of activity also includes enterobacteriaceae producing a broad spectrum beta-lactamase (EBLSE). Ceftolozane/tazobactam is currently marketed for the treatment of complicated intra-abdominal infections and complicated urinary tract infections. These intra-abdominal and urinary infections are mainly caused by enterobacteriaceae (Escherichia coli, Klebsiella pneumoniae) and more rarely by P. aeruginosa. Concerning enterobacteriaceae, French epidemiology reports a prevalence of BLSE of between 10 and 15% in E. coli and 10%-30% in K. pneumoniae.
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.
The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio analysis (N in total 1350).
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.
This is a 6-part first-in-human study in up to approximately 184 participants. Parts 1 to 5 is in health volunteers and part 6 is in subjects with atopic dermatitis. The purpose of this first-in-human study is to assess the safety and tolerability and pharmacokinetics (PK) of single and multiple doses of LOU064 both as once and twice daily oral administration in healthy volunteers and those with atopic diathesis or atopic dermatitis. This study will also explore the effect of food intake and different drug substance particle sizes on the in vivo disposition of LOU064 in healthy volunteers to guide dosing and formulation development for future clinical trials. The study is registered on CT.Gov with the initiation of part 6 in patients (FPFV in April 2019).