Clinical Research Directory
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7 clinical studies listed.
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Tundra lists 7 Gene Abnormality clinical trials. Each listing includes eligibility criteria, study locations, and direct links to research sites in the Tundra directory.
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NCT05361070
Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy
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.
Gender: All
Updated: 2026-02-05
7 states
NCT05959720
Adult Acute Lymphoblastic Leukemia Treated With Pediatric Regimen in Brazil
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.
Gender: All
Ages: 16 Years - 50 Years
Updated: 2025-05-07
1 state
NCT04263935
Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma
Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma
Gender: All
Updated: 2025-04-23
1 state
NCT06841861
Spermatogonial Differentiation Via Testicular Organoid
Purpose: This clinical trial aims to explore the potential for human sperm production in vitro by sustaining a laboratory-cultured adult testicular environment. It also seeks to identify genetic factors contributing to human sterility and failed spermatogenesis. The study's primary objectives include: 1. Identifying genomic markers associated with sterility and failed spermatogenesis. 2. Developing an ex vivo (outside the body) testis "organ-on-a-chip" ("iTestis") to support stem cell cultivation. 3. Determining whether human spermatogenesis can be re-created in vitro using stem cells nurtured in the iTestis model. Study Description: Researchers will analyze the genomic profiles of fertile and sterile male participants to map genetic abnormalities associated with sterility. Using testicular and skin tissue samples from participants, spermatogonial stem cells and pluripotent stem cells will be isolated and utilized to construct the ex vivo iTestis. This system will integrate genomic insights and prior research to foster human spermatogenesis outside the body. Participant Involvement: Participants will provide the following samples: * Blood sample for serum analysis. * A skin tissue biopsy. * Testicular tissue, obtained through fine needle aspiration (FNA) or testicular sperm extraction (TESE), as part of a routine procedure. All procedures will be conducted by the principal investigator and qualified research staff, ensuring participant safety and adherence to ethical guidelines.
Gender: MALE
Ages: 18 Years - 60 Years
Updated: 2025-02-24
1 state
NCT06278428
Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age
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?
Gender: All
Ages: Any - 23 Months
Updated: 2025-01-09
NCT03192501
iCAGES-guided Precision Therapy for Cancers in Contrast to Standard Care or IHC-guided Theray
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.
Gender: All
Ages: 18 Years - 70 Years
Updated: 2024-06-25
1 state
NCT06420622
INDIcators for Clarifying the bAckground of exTreme Obesity in childRen
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.
Gender: All
Ages: 2 Years - 18 Years
Updated: 2024-05-20
1 state