Clinical trials: Mutation Abnormality
Colorectal Cancer Metastatic
FOLFOX Via HAI Plus Intravenous Irinotecan With or Without Bevacizumab Versus Systemic FOLFOXIRI With or Without Bevacizumab in Initially Unresectable RAS-mutated CRLM Patients
This prospective, randomized, controlled clinical study aims to evaluate the objective remission rate of FOLFOX hepatic artery infusion chemotherapy (HAI) in combination with systemic irinotecan with or without bevacizumab versus…
- Trial name
- NCT05727163
- Testing
- Dexamethasone, Anisodamine, Oxaliplatin
- Where
- China
- Volunteers
- 194 people
- Sponsor
- Sun Yat-sen University
Advanced Lung Cancer
A Real-World Study of Treatment Patterns and Effectiveness in MET Mutation-Positive Advanced Lung Cancer
This is a descriptive observational study in which data are collected in an epidemiological manner. This study is not intended to alter or interfere with the current medical practice of the enrolled patients.
- Trial name
- NCT06183762
- Testing
- No treatment is included in this protocol.
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Hunan Province Tumor Hospital
Women With BRCA1 Germline Deleterious Mutation
Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)
BRCA1 carriers who are at high risk of developing either a relapse and/or a new cancer growth will be included. These patients will be followed up during 30 months (2,5 years) with mutated TP53 mutation detection or during 42…
- Trial name
- NCT02608346
- Testing
- Blood sampling
- Where
- 4 sites in France
- Volunteers
- 200 people
- Sponsor
- Institut Curie
Wilson Disease, Wilson's Disease
A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD)
The purpose of this study is to evaluate the safety, tolerability, biological activity, and initial efficacy of PM577a, an investigational Prime Editing therapy, in adults and adolescents with Wilson disease (WD).
- Conditions
- Wilson Disease, Wilson's Disease, Wilsons Disease
- Trial name
- PM577a (NCT07748403)
- Testing
- PM577a
- Where
- 4 sites in United States, New Zealand
- Volunteers
- 42 people
- Sponsor
- Prime Medicine, Inc.
24-hydroxylase Deficiency
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
You are being asked to take part in this research registry because you or your family member is suspected to have a 24-hydroxylase deficiency.
- Trial name
- NCT03478761
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Mayo Clinic
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Hearing Loss
Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
Disequilibrium between acid and base in the inner ear was suggested to be an important factor leading to hearing impairment associated with SLC26A4 mutations.
- Trial name
- NCT00789061
- Testing
- Proton pump inhibitor
- Where
- Taiwan
- Volunteers
- 120 people
- Sponsor
- National Taiwan University Hospital
Diffuse Midline Glioma (DMG), Diffuse Intrinsic Pontine Glioma (DIPG)
Targeted LSAM-Cisplatin Infusion in Gliomas, Evaluation of Response
Open-label, dose-escalating, Phase 1/2a trial of Large Surface Area Microparticle (LSAM)-Cisplatin to treat participants with diffuse midline glioma (DMG), including diffuse intrinsic pontine glioma (DIPG), via stereotactic…
- Conditions
- Diffuse Midline Glioma (DMG), Diffuse Intrinsic Pontine Glioma (DIPG), Diffuse Midline Glioma or Diffuse Intrinsic Pontine Glioma
- Trial name
- TIGER-1 (NCT07767110)
- Testing
- LSAM-Cisplatin
- Volunteers
- 20 people
- Sponsor
- NanOlogy, LLC
Hemophilia A
Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers
The purpose of this study is to determine how female hemophilia A carriers respond to a medication called DDAVP (Desmopressin).
- Trial name
- NCT02506023
- Testing
- Desmopressin
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Emory University
FLT3 Gene Mutation, AML
The Efficacy of Triple Regimen in Newly Diagnosed AML Patients With FLT3 Mutation
The FMS tyrosine kinase 3 (FLT3) gene mutation occurs in 30% of newly diagnosed AML patients, leading to a higher relapse rate and mortality rate.
- Trial name
- FLT3AML-2024 (NCT06561880)
- Testing
- Venetoclax, Cytarabine, Gilteritinib
- Where
- China
- Volunteers
- 66 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Breast Cancer, Ovarian Cancer
Study to Evaluate TNG348 Alone and With a PARP Inhibitor in Patients With BRCA 1/2 Mutant or HRD+ Solid Tumors
The goal of this interventional clinical trial is to learn about TNG348, a ubiquitin specific peptidase 1 (USP1) inhibitor, alone and in combination with olaparib in patients with BRCA 1/2 mutant or HRD+ solid tumors.
- Conditions
- Breast Cancer, Ovarian Cancer, Pancreas Cancer, Prostate Cancer
- Trial name
- NCT06065059
- Testing
- TNG348, Olaparib
- Where
- 7 sites in United States
- Volunteers
- 7 people
- Sponsor
- Tango Therapeutics, Inc.
Lung Cancer
Real World Treatment Study of AZD9291 for Advanced/Metastatic EGFR T790M Mutation NSCLC
The aim of this study is to assess the efficacy and safety of single agent AZD9291 in a real world setting in adult patients with advanced or metastatic, epidermal growth factor receptor (EGFR) T790M mutation-positive Non-Small…
- Trial name
- ASTRIS (NCT02474355)
- Testing
- T790M+ Testing, Baseline Visit Blood & Urine Testing, Baseline ECG
- Where
- 201 sites in Argentina, Australia and 14 more
- Volunteers
- 3,017 people
- Sponsor
- AstraZeneca
NSCLC
Retrospective Multi-cohort Study of Frontline Afatinib Followed by 2nd Line Therapy Including Osimertinib, Chemotherapy or Other Therapy
The T790M mutation is highly sensitive to osimertinib, which is approved in this setting following failure of gefitinib, erlotinib or afatinib.
- Trial name
- NCT04930133
- Testing
- Gilotrif
- Where
- South Korea
- Volunteers
- 737 people
- Sponsor
- Seoul St. Mary's Hospital
PIK3CA Mutation, Solid Tumor, Adult
First-in-Human Study of RLY-5836 in Advanced Breast Cancer and Other Solid Tumors
This is a Phase 1, first-in-human, open-label study designed to evaluate the maximum tolerated dose (MTD), recommended phase 2 dose (RP2D), safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary anti-tumor…
- Conditions
- PIK3CA Mutation, Solid Tumor, Adult, HER2-negative Breast Cancer, Breast Cancer
- Trial name
- NCT05759949
- Testing
- RLY-5836, Fulvestrant, Palbociclib
- Where
- 7 sites in United States
- Volunteers
- 41 people
- Sponsor
- Relay Therapeutics, Inc.
Lung Neoplasms
Novel Detection System for Lung Cancer Curative Effect Monitoring
The purpose of this study is to investigate the sensitivity，specificity and concordance rate of EGFR testing results in plasma in comparison of results in matched tumor tissues tested by amplification refractory mutation…
- Trial name
- NCT02666755
- Volunteers
- 160 people
- Sponsor
- Jian Zhang
Schuurs-Hoeijmakers Syndrome
Personalized Antisense Oligonucleotide for A Single Participant With PACS1 Gene Mutation Associated With Schuurs-Hoeijmakers Syndrome (SHMS)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug intended for a single participant with Schuurs-Hoeijmakers syndrome (SHMS) due to a pathogenic, de novo, heterozygous missense…
- Trial name
- NCT07474298
- Testing
- nL-PACS1-001
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
ESR1 Gene Mutation, Breast Cancer (Locally Advanced or Metastatic)
ESR1 Mutations in Metastatic Hormone Receptor-Positive Breast Cancer in the Greek Population
The goal of this observational study is to assess the prevalence of ESR1 mutations in patients with metastatic hormone receptor-positive/HER2-negative breast cancer in Greece and evaluate the associations of these mutations with…
- Conditions
- ESR1 Gene Mutation, Breast Cancer (Locally Advanced or Metastatic), Hormon Receptor Positive Breast Cancer
- Trial name
- ΗΕ 11ESR1/24 (NCT07899463)
- Where
- Greece
- Volunteers
- 500 people
- Sponsor
- Hellenic Cooperative Oncology Group
Lung Cancer
Gefitinib in Treating Patients With Stage IIIA Non-Small Cell Lung Cancer
RATIONALE: Gefitinib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Giving Gefitinib before surgery may make the tumor smaller and reduce the amount of normal tissue that needs to be…
- Trial name
- NCT00616499
- Testing
- gefitinib, neoadjuvant therapy, therapeutic conventional surgery
- Where
- 4 sites in South Korea
- Volunteers
- 35 people
- Sponsor
- Yonsei University
Non Small Cell Lung Cancer, EGFR Activating Mutation
A Prospective Cohort Study to Evaluate Molecular pRognostic Factors and Resistance Mechanisms to Osimertinib in Adjuvant Treatment of Completely Resected pIB-IIIA Non-small Cell Lung Carcinoma With Common EGFR Mutations (L858R and Del19)
IFCT-2202 ROSIE study aims to incorporate a broad-panel centralized NGS testing at baseline in all patients with completely resected NSCLC with common EGFR mutation after confirmation of an optimal preoperative extension…
- Conditions
- Non Small Cell Lung Cancer, EGFR Activating Mutation, EGFR DEL19, EGFR L858R
- Trial name
- ROSIE (NCT06053099)
- Testing
- Plasma ctDNA, FFPE blocks
- Where
- 36 sites in France
- Volunteers
- 300 people
- Sponsor
- Intergroupe Francophone de Cancerologie Thoracique
NALP3 Mutation
Safety, Efficacy, Pharmacokinetics, Pharmacodynamics of ACZ885 in Patients With NALP3 Mutations and Clinical Symptoms
This study will investigate the clinical efficacy, safety, pharmacokinetics (PK) and pharmacodynamics (PD) of ACZ885, administered intravenously and subcutaneously to patients with NALP3 mutations whose clinical symptoms are…
- Trial name
- NCT00487708
- Testing
- canakinumab
- Where
- 10 sites in France, Germany and 3 more
- Volunteers
- 34 people
- Sponsor
- Novartis Pharmaceuticals