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Somatic Mutation clinical trials

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NCT ID: NCT06054295 Recruiting - Clinical trials for Central Nervous System Tumor

Somatic Mosaicism in Twins Discordant for Childhood Cancer

Start date: June 3, 2024
Phase:
Study type: Observational

Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date. This pilot study will focus on twins with central nervous system (CNS) tumors who are identified through the Children's Oncology Group's Project: EveryChild (PEC) registry or volunteer.

NCT ID: NCT05735717 Recruiting - Clinical trials for Acute Myeloid Leukemia

MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies

Start date: May 11, 2023
Phase: Phase 2
Study type: Interventional

This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies

NCT ID: NCT05364294 Recruiting - Genetic Disease Clinical Trials

Molecular Diagnosis of Systemic Autoinflammatory Diseases

SAIDiag
Start date: May 18, 2022
Phase:
Study type: Observational

Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.

NCT ID: NCT04516083 Recruiting - Endometrial Cancer Clinical Trials

Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation

Start date: December 21, 2019
Phase:
Study type: Observational [Patient Registry]

The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general accessibility. The study concentrates on early diagnosis of Lynch syndrome. Lynch syndrome is usually diagnosed from a blood test resulting in a mutation of one of the mismatch repair genes. Those are MLH1, MSH2, MSH 6, PMS2. A mutation in one of these genes creates a mismatch repair instability,hence higher incidence of cancers in specific organ groups. Amongst these organs are the Uterus, Ovaries, Upper genitourinary system, Pancreas and GI system. The most common endometrial carcinoma which is found in Lynch syndrome is of endometrioid histology. Most patients with known germline mismatch repair instability, have the same somatic mutation. Our study is looking into correlating somatic mutation to germline mutation. By doing so, patients diagnosed with somatic mismatch repair instability will be also diagnosed with lynch syndrome without germline genetic testing. Screening programs will be utilized earlier and preventive procedures offered. Due to less access to educational programs, genetic counseling and testing in underserved areas, patients are sometimes lost to follow up. Our study seeks to prove high correlation between somatic and germline mutations and by doing so, patient will be diagnosed with Lynch syndrome straight after endometrial cancer staging. As a result, increased compliance will be expected and patients will be offered the recommended preventative surgeries and screening protocols.

NCT ID: NCT03092128 Recruiting - Clinical trials for Gastrointestinal Stromal Tumors

A Retrospective Pharmacokinetics and Pharmacogenomics Research of Imatinib in Gastrointestinal Stromal Tumor Treatment

Start date: June 2014
Phase:
Study type: Observational

For patients of GIST (Gastrointestinal Stromal Tumor), Imatinib has been widely used in GIST with KIT or PDGFRA sensitive mutations. From clinical points of view, individual differences often occur between different patients, leading diverse effect in ADR and drug effect. Meanwhile, the drug effect and adverse drug reaction was significantly influenced by the pharmacokinetic factors and pharmacodynamic and other factors. In this research, we try to establish a more sensitive method to detect sensitive mutations in plasma and discover the correlation between somatic and germline mutations, plasma trough concentration and drug effect, the association between ADME-associated SNP, Target/Receptor/Pathway-associated SNP, trough concentration and TKI adverse effect. Furthermore, in vivo and in vitro research is also crucial for rational explanation for these clinical phenomenon.

NCT ID: NCT01994057 Recruiting - Clinical trials for Non-small Cell Lung Cancer (NSCLC)

A Retrospective Study of EGFR-TKIs,Gefitinib, Erlotinib and Osimertinib in NSCLC Patients Treatment

Start date: September 2012
Phase:
Study type: Observational

For patients of advanced NSCLC (non small cell lung cancer) , Individualized cancer therapy has been widely accepted since the success of crizotinib administration based on EML4-ALK fusion gene detection and gefitinib and erlotinib administration based on EGFR-TKIs sensitive mutations.From clinical points of view ,individual differences often occur between different patients, leading diverse effect in ADR and drug effect.Meanwhile ,the drug effect and adverse drug reaction was significantly influenced by the pharmacokinetic factors and pharmacodynamic factors.In this research ,we try to establish a more sensitive method to detect sensitive mutations in plasma and discover the correlation between somatic and germline mutations , trough concentration and EGFR-TKI drug effect, the association between ADME-associated SNP ,trough concentration and EGFR-TKI adverse effect .Furthermore, in vivo and in vitro research is also crucial for rational explanation for these clinical phenomenon.