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Genetic Mutation clinical trials

View clinical trials related to Genetic Mutation.

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NCT ID: NCT06055595 Active, not recruiting - Pregnancy Related Clinical Trials

Genetic Factors and CP Pregnancy Outcomes

Start date: January 2010
Phase:
Study type: Observational [Patient Registry]

To explore the impact of chronic pancreatitis (CP) susceptibility genes on pregnancy outcomes.

NCT ID: NCT05691036 Recruiting - Clinical trials for Health Related Quality of Life

Bile Acids Metabolism and Genetic Mutation Profile in the ICP in the Indian Population

ICP
Start date: December 8, 2022
Phase:
Study type: Observational

Intrahepatic cholestasis of pregnancy (ICP) is a disorder characterized by itching, elevated fasting serum bile acids ≥10μmol/L (and elevated serum transaminases), with increased risks of perinatal complications, including spontaneous preterm labor, fetal distress, infant respiratory distress syndrome, meconium-stained liquor (MSL), and sudden intrauterine death (IUD). The Incidence of ICP varies from 0.1 to 15.6% of all pregnancies, with the highest cases in Chile, South Asia, America, and Scandinavia. The burden of ICP in India according to various states is as follows Punjab (3.1%), Chandigarh (4.8%), Delhi (0.79%), West Bengal (3.3%), and Lucknow (Uttar Pradesh) (2.8%).

NCT ID: NCT04830787 Completed - Clinical trials for Hypertrophic Cardiomyopathy

Correlation Between Myocardial Deformation and Coronary Artery Tortuosity in Patients With Hypertrophic Cardiomyopathy

Start date: December 1, 2017
Phase:
Study type: Observational

Correlation between Myocardial Deformation and Coronary Tortuosity and Analysis of Genetic Factors Among Hypertrophic Cardiomyopathy Patients

NCT ID: NCT04811274 Recruiting - Genetic Mutation Clinical Trials

Macrophages, GM-CSF and MARS Proteinosis

MacroMARS
Start date: June 7, 2021
Phase:
Study type: Observational

Mutations in the MARS gene encoding methionyl-tRNA synthetase are responsible for a genetic form of alveolar proteinosis (PAP), but the pathophysiological mechanisms of the respiratory phenotype are not known. The main hypothesis is that the PAP phenotype in these patients is secondary to a defective clearance of the surfactant by the alveolar macrophages. The main objective of the study is to study the clearance capacity of lipoproteinaceous material by macrophages of patients with MARS related PAP. This will be investigate in cultured macrophages derived from peripheral blood monocytes of patients (patients with MARS related PAP) and controls (patients without MARS related PAP).

NCT ID: NCT04574297 Active, not recruiting - Clinical trials for Chronic Pancreatitis

An Observational Study on the Natural Course of Chronic Pancreatitis

Start date: January 1, 2011
Phase:
Study type: Observational

To explore the impact on genetic and environmental factors for clinical manifestation, and the progression of chronic pancreatitis, including development of pancreatic insufficiency and other complications.

NCT ID: NCT03043508 Active, not recruiting - Genetic Mutation Clinical Trials

Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors)

Start date: April 10, 2015
Phase:
Study type: Observational

OBJECTIVES: The primary objective of this study is to evaluate the effect of estrogen on the development of the PNET in MEN1 patients. The secondary objective is to evaluate the overall survival and disease specific survival in patients who have confirmed MEN1 with or without PNET and a pancreatic neuroendocrine tumor in relation to their hormone status. The secondary objective is to evaluate clinicopathologic features in relation to hormone status.