Clinical trials: Genetic Mutation
Pseudohermaphroditism, Congenital Adrenal Hyperplasia
Mutation Analysis of 17α-Hydroxylase
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
- Conditions
- Pseudohermaphroditism, Congenital Adrenal Hyperplasia, Hypertension
- Trial name
- NCT00172510
- Testing
- blood drawing
- Where
- Taiwan
- Volunteers
- 25 people
- Sponsor
- National Taiwan University Hospital
X-linked Hypophosphatemia
Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH
This is phase 3b open-label, international, multicenter study to continue to monitor the long-term safety and efficacy of burosumab in adult patients with XLH that participated in previous clinical trials with burosumab…
- Trial name
- NCT03920072
- Testing
- Burosumab
- Where
- 10 sites in France, Ireland and 2 more
- Volunteers
- 35 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lymphoma, B-Cell, Small Lymphocytic Lymphoma
A Study of Nemtabrutinib (MK-1026) in Participants With Relapsed or Refractory Hematologic Malignancies (ARQ 531-101/MK-1026-001)
This study aims to evaluate the safety, tolerability, pharmacodynamic, and pharmacokinetic (PK) of nemtabrutinib (formerly ARQ 531) tablets in selected participants with relapsed or refractory hematologic malignancies.
- Conditions
- Lymphoma, B-Cell, Small Lymphocytic Lymphoma, Chronic Lymphocytic Leukemia, Waldenstrom Macroglobulinemia
- Trial name
- NCT03162536
- Testing
- Nemtabrutinib
- Where
- 10 sites in United States
- Volunteers
- 190 people
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Non-Small-Cell Lung Cancer
Combination of Vebreltinib and Osimertinib in Patients with EGFR 21 L858R Mutation Advanced NSCLC
This is a Prospective, open label, single arm study to evaluate the efficacy and safety of Vebreltinib combined with Osimertinib in the treatment of locally advanced or metastatic non-small cell lung cancer with EGFR 21 L858R…
- Trial name
- NCT06827145
- Testing
- Vebreltinib, Osimertinib
- Where
- China
- Volunteers
- 30 people
- Sponsor
- National Cancer Center, China
Pregnancy Malaria
Assessing to What Extent Dhps-431V Mutation May Influence the Protective Efficacy of IPTp-SP
Malaria in pregnancy (MiP) continues to be a significant public health issue, particularly in sub-Saharan Africa. The coverage of pregnant women with three or more doses of intermittent preventive treatment using…
- Trial name
- DEEM-FIT (NCT04634695)
- Where
- 2 sites in Nigeria
- Volunteers
- 288 people
- Sponsor
- Obafemi Awolowo University
Muscular Dystrophy, Duchenne
A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)
Part 1 (dose escalation) will evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram [mg/kg] and 200 mg/kg) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will…
- Trial name
- MIS51ON (NCT03992430)
- Testing
- Eteplirsen
- Where
- 59 sites in United States, Colombia and 24 more
- Volunteers
- 160 people
- Sponsor
- Sarepta Therapeutics, Inc.
Cystic Fibrosis
Study to Evaluate the Safety and Efficacy of CTP-656 in Patients With Cystic Fibrosis With CFTR Gating Mutations
This study will evaluate the efficacy and safety of CTP-656 in patients with cystic fibrosis (CF) who have a cystic fibrosis transmembrane conductance regulator (CFTR) gating mutation.
- Trial name
- NCT02971839
- Testing
- VX-561, IVA
- Where
- 14 sites in United States
- Volunteers
- 11 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Non-small Cell Lung Cancer Stage III, Non-Small-Cell Lung Cancer Metastatic
EGFR Mutations on ctDNA in Patients With Advanced NSCLC
The study aims to explore the prevalence of EGFR mutations assessed with ctDNA samples in advanced NSCLC, who had received ≤ 1 prior systemic chemotherapy regimens.
- Trial name
- NCT02623257
- Testing
- mutation detection, ARMS, ctDNA analysis
- Where
- China
- Volunteers
- 1,055 people
- Sponsor
- First People's Hospital of Hangzhou
Epithelial Ovarian Cancer, Chinese
Homologous Recombination Deficiency Status in Epithelial Ovarian Cancer
The homologous recombination deficiency (HRD) status in Chinese population with epithelial ovarian cancer (EOC) is little known. This study would recruit 1300 Chinese EOC patients.
- Conditions
- Epithelial Ovarian Cancer, Chinese, Homologous Recombination Deficiency, BRCA1 Mutation
- Trial name
- NCT04190667
- Testing
- Genomic testing
- Where
- China
- Volunteers
- 1,300 people
- Sponsor
- Lei Li
Non-small Cell Lung Cancer
Natural Killer(NK) Cell Combined With Programmed Death-1(PD-1) Antibody as Second Line Therapy for Advanced Driver Mutation Negative Non-small Cell Lung Cancer
PD-1 antibody has been approved as second line therapy for driven mutation negative non-small cell lung cancer, but overall response rate is only between 15-20%.
- Trial name
- NCT03958097
- Testing
- NK cell and PD-1 antibody
- Where
- China
- Volunteers
- 20 people
- Sponsor
- The First Hospital of Jilin University
Parkinson Disease
Striatal and Extra-Striatal Cholinergic Terminal Density in LRRK2-PD Mutation
This study explores how a specific genetic mutation of leucine-rich repeat kinase 2 (LRRK2) affects individuals with Parkinson's disease (PD), comparing those with the mutation to others with Parkinson's disease and without the…
- Trial name
- LRRK2 (NCT07642908)
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Michigan
NSCLC
Comprehensive Analysis of Gene Mutation Profile in Chinese NSCLC Patients by Next-generation Sequencing
In recent years, the development of lung cancer has been improved from pathological level to the molecular level. Research showed that there are many gene mutations in non-small cell lung cancer (NSCLC), and some activating…
- Trial name
- NCT03609918
- Volunteers
- 513 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
Glioma, Diffuse Intrinsic Pontine Glioma
A Study of Panobinostat in Combination With Everolimus for Children and Young Adults With Gliomas
This phase 2 trial will evaluate the activity of Panobinostat in combination with Everolimus for children with gliomas harboring H3.1 or H3.3K27M mutation, including newly diagnosed high-grade glioma or DIPG (diffuse intrinsic…
- Trial name
- NCT03632317
- Testing
- Panobinostat, Everolimus
- Where
- United States
- Sponsor
- University of Michigan Rogel Cancer Center
Thrombocytopenia, Isolated, Thrombocytopenia 4
Unravelling the Role of Apoptosis in Platelets Biogenesis Through the Study of the Thrombocytopenia THC4
Inherited thrombocytopenias (ITs) are disorders characterized by a reduced platelet count, caused by variants in at least 40 genes. Mutations in CYCS cause a rare autosomal-dominant IT, named Thrombocytopenia 4 (THC4).
- Conditions
- Thrombocytopenia, Isolated, Thrombocytopenia 4, CYCS MUTATION- ASSOCIATED THROMBOCYTOPENIA THC4
- Trial name
- THC4 (NCT07026578)
- Testing
- Blood draw for the laboratory assessment
- Where
- Italy
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Metastatic Non-small Cell Lung Cancer
Clinical Trial of the Efficacy and Safety of AC0010 in the Treatment of EGFR T790M Patients With Advanded NSCLC
The study is a single-arm, multi-center, open-label clinical trial. The study aims to expand the sample size based on the fixed dose recommended by the results of previous dose exploration studies in order to further evaluate the…
- Trial name
- NCT03300115
- Testing
- AC0010
- Where
- 25 sites in China
- Volunteers
- 222 people
- Sponsor
- Hangzhou ACEA Pharmaceutical Research Co., Ltd.
EGFR Positive Non-small Cell Lung Cancer, Adenocarcinoma
Icotinib as First-line and Maintenance Treatment in EGFR Mutated Patients With Lung Adenocarcinoma
This study is designed to compare the efficacy and safety of first-line icotinib treatment and first-line chemotherapy followed by maintenance treatment with icotinib.
- Trial name
- NCT01665417
- Testing
- Experimental, Chemotherapy
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Betta Pharmaceuticals Co., Ltd.
Non-Small Cell Lung Cancer, NSCLC
First-In-Human Study of STX-721/PFL-721 in Participants With Locally Advanced or Metastatic Non-Small Cell Lung Cancer Harboring EGFR or HER2 Exon 20 Insertion Mutations
Study STX-721-101/PFL-721CI101 is an open label, Phase 1/2 study evaluating the safety, tolerability, pharmacokinetic (PK) exposure, and preliminary antitumor activity of STX-721/PFL-721 in participants with non-small cell lung…
- Conditions
- Non-Small Cell Lung Cancer, NSCLC, EGFR/HER2 Exon 20 Insertion Mutation
- Trial name
- NCT06043817
- Testing
- STX-721/PFL-721 (Escalated), STX-721/PFL-721 (3 dose levels), STX-721/PFL-721 (RP2D)
- Where
- 32 sites in United States, Australia and 6 more
- Volunteers
- 345 people
- Sponsor
- Pierre Fabre Medicament
Non-small Cell Lung Cancer
Phase III, Open-label Study of First-line Osimertinib With or Without Datopotamab Deruxtecan for EGFRm Locally Advanced or Metastatic Non-small Cell Lung Cancer
The purpose of this study is to evaluate efficacy and safety of osimertinib (tablet) in combination with Dato-DXd (i.v. infusion) compared with osimertinib (tablet) monotherapyas a first-line therapy in participants with locally…
- Trial name
- TROPION-Lung14 (NCT06350097)
- Testing
- Osimertinib, Datopotamab Deruxtecan
- Where
- 167 sites in United States, Australia and 17 more
- Volunteers
- 582 people
- Sponsor
- AstraZeneca
Non-small Cell Lung Cancer, Pancreas Cancer
T Cell Receptor T Cells for Advanced KRAS G12V-mutant Non-small Cell Lung Cancer, Pancreas Cancer, Colon Cancer
This phase I trial studies the side effects and best dose of autologous CD8+ and CD4+ transgenic T cells expressing high affinity KRASG12V mutation-specific T cell receptors (FH-A11KRASG12V-TCR) and to see how well they work in…
- Conditions
- Non-small Cell Lung Cancer, Pancreas Cancer, Colon Cancer
- Trial name
- NCT06043713
- Testing
- Bendamustine, Biopsy, Biospecimen Collection
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Fred Hutchinson Cancer Center
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