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Gene Abnormality clinical trials

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NCT ID: NCT06420622 Recruiting - Child Obesity Clinical Trials

INDIcators for Clarifying the bAckground of exTreme Obesity in childRen

INDICATOR
Start date: April 15, 2024
Phase:
Study type: Observational

The study investigates the genetic backgrounds of extreme childhood obesity (using saliva sample) and contains short online questionnaires on family history, phenotypical characteristics and hunger behavior. It is an observational study in a predefined cohort (subjects with data in CrescNet aged 0-18 with BMI measurement(s) above the 99.5th percentile). Recruitment will initially be from CrescNet data through the cooperating pediatric and adolescent medical institutions associated with these initiative of data collection in Germany.

NCT ID: NCT06278428 Recruiting - Child Development Clinical Trials

Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age

Start date: November 1, 2023
Phase:
Study type: Observational [Patient Registry]

According to estimates by the World Health Organization in 2019, more than 50 million people around the world have epilepsy. Nearly 80% of patients with epilepsy live in developing countries. Among them, children under 2 years old are the group with the highest incidence of epilepsy, and at the same time, the most dangerous epilepsy groups are also likely to start at these ages. World medical literature on epileptic encephalopathy and early-onset development before 2 years of age records that 71% of children have severe intellectual disability and 60% of children show signs of autism spectrum disorder, of which Children with epileptic and developmental encephalopathy due to genetic causes are at higher risk of developing neurodevelopmental disorders than children with epileptic and developmental encephalopathy due to other causes. However, in Vietnam, there is no research on this topic. The question is what are the phenotypes, genotypes, and progression after 2 years of follow-up of Vietnamese children with epileptic and developmental encephalopathy with onset before 2 years of age?

NCT ID: NCT05959720 Recruiting - Clinical trials for Chemotherapeutic Toxicity

Adult Acute Lymphoblastic Leukemia Treated With Pediatric Regimen in Brazil

BRALLA
Start date: September 5, 2023
Phase:
Study type: Observational [Patient Registry]

In this project, the investigators intend to start a prospective registry for patients with newly diagnosed Philadelphia-negative ALL from 16 years old and above in participating centers, provided that all patients will be treated with the same regimen (a pediatric regimen BFM-based incorporating peg-asparaginase). All diagnostic/follow-up (after induction and consolidation blocks) samples will be centrally biobanked at Instituto do Cancer do Estado de Sao Paulo. The main goal of this study is to examine whether the implementation of a pediatric protocol under a prospective registry can increase event-free survival (EFS) and overall survival (OS) of newly diagnosed patients in the participating centers.

NCT ID: NCT05361070 Recruiting - Stroke Clinical Trials

Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy

NSR-GENE
Start date: August 9, 2022
Phase:
Study type: Observational [Patient Registry]

The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of post-neonatal epilepsy among children with acute provoked neonatal seizures. The researchers aim to develop prediction rules to stratify neonates into low, medium, and high risk for post-neonatal epilepsy based on clinical, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic risk factors.

NCT ID: NCT05071742 Recruiting - Clinical trials for Inflammatory Bowel Disease

Correlation of Genetic Susceptibility Genes to Inflammatory Bowel Disease in Chinese Han Population

CGSGIBDCHP
Start date: November 25, 2021
Phase:
Study type: Observational

The pathogenesis of IBD is still unclear, and the disease characteristics of IBD patients are affected by genetic susceptibility genes. Therefore, this study aims to explore the relationship between genetic susceptibility genes of IBD and the pathogenesis of IBD in Chinese Han population, in order to clarify the pathogenesis of IBD and provide basis for individualized treatment of IBD.

NCT ID: NCT04997538 Recruiting - Gene Abnormality Clinical Trials

Study on Susceptibility Genes of Anterior Cruciate Ligament, Patella Dislocation and Discoid Meniscus

Start date: March 21, 2019
Phase:
Study type: Observational

Genomes of all sports medicine-related genes will be exome sequenced to find relevant gene mutations. To further study the molecular mechanisms and signaling pathways related to sports injury. To search for genetic risk factors of injury and put forward related scientific hypotheses. To demonstrate the importance of mutation or polymorphism of related genes in injury.

NCT ID: NCT04823741 Recruiting - Clinical trials for Pleural Mesothelioma

Molecular, Pathologic Intra Tumoral Heterogeneity in Malignant Pleural Mesothelioma

SCITH-MESO
Start date: February 11, 2022
Phase:
Study type: Observational

Malignant pleural mesothelioma (MPM) is a rare pleural cancer, which could be primary or secondary to an asbestos exposure. To enhance our knowledge of this rare disease, an exploration of genetic and tumor mechanism is mandatory. One of the principal difficulty is to harvest sufficient tumour pieces to perform multi-omics analysis. The goal of the SCITH-MESO study is to harvest larges pieces of tumour during a routine surgical procedure of MPM diagnosis by mean of pleural biopsies during VATS surgery. Operating samples will increase a tissue bank collection (CRB).

NCT ID: NCT04263935 Recruiting - Lymphoma Clinical Trials

Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma

Start date: January 3, 2019
Phase:
Study type: Observational

Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma

NCT ID: NCT04175002 Recruiting - Gene Abnormality Clinical Trials

Endometrial Heparin-binding Epidermal Growth Factor Expression

Start date: August 1, 2019
Phase:
Study type: Observational

Women with PCOS comprise a majority of fertility clinic attendees. Unfortunately, a high failure rate following fertility treatment was observed especially in obese women due to implantation failure. The local study on PCOS women has shown significant changes in an endometrial tumor - regulatory genes but not focusing on the endometrial implantation failure. Many previous attempts using human chorionic gonadotrophin (HCG) infused embryo, gonadotrophin agonist therapy or progesterone support aiming to improve implantation failure in the assisted reproductive technique still unable to enhance pregnancy rate beyond 40% despite a higher` fertilization rate up to 95%. There is still a research gap on what makes obese PCOS women prone to coincides with implantation failure. Endometrial component related to the expression of growth factors play an integral role in establishing cellular context necessary for successful pregnancy. Thus, a new fundamental knowledge on endometrial specific heparin-binding epidermal growth factor expression in the obese PCOS women is vitally important, not only to predict implantation failure but a potential therapy to improve pregnancy outcome.

NCT ID: NCT03192501 Recruiting - Cancer Clinical Trials

iCAGES-guided Precision Therapy for Cancers in Contrast to Standard Care or IHC-guided Theray

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

This study prospectively evaluates whether the use of iCAGES (integrated CAncer GEnome Score) tool in guiding the treatment of advanced cancers is superior to current standard care or IHC-guided therapy in progress free survival (PFS),overall survival (OS),and improvement of life quality.