Clinical trials: Gene Mutation
Dilated Cardiomyopathy, Lef Ventricular Dysfunction
Prospective Becker-Heart-Study
The purpose of this study is to determine whether electrocardiogram, echocardiography, cardiac MRI, sera biomarkers can improve early detection of myocardial involvement and clinical outcome.
- Conditions
- Dilated Cardiomyopathy, Lef Ventricular Dysfunction, Heart Failure
- Trial name
- Becker-HS (NCT02020954)
- Testing
- ECG, echocardiography, cardiac MRI, sera biomarkers
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Karim WAHBI
Dyskinesias
Pilot Study on Caffeine Efficiency in ADCY5-related Dyskinesia
Heterozygous mutations in the ADCY5 gene cause involuntary early-onset hyperkinetic movements. In addition, patients may have associated psychiatric disorders.There is currently no treatment.
- Trial name
- CAF-ADCY5 (NCT04351360)
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hereditary Colorectal Cancer
Systemic Screening for Hereditary Colorectal Cancer in China
The purpose of the this study is to determine the prevalence of germline cancer susceptibility gene mutation among Chinese population, and to find best ways to screen patients with colorectal cancer in China.
- Trial name
- NCT03365986
- Testing
- genetic screening
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Sun Yat-sen University
Full Gene Sequences of c-KIT、PDGFRA and DOG1 Are Analyzed With the Screening-sequencing Approach, Investigate the Characteristics and Variations Associated With the Different Gene Mutations of c-KIT、PDGFRA and DOG1 in GIST Patients
Study on the Evolution of Genes Mutation Related With Gastrointestinal Stromal Tumors
Mutations of tumor-related genes are dynamic. Gastrointestinal stromal tumor cells often are obviously more invasive in case of recurrence.
- Trial name
- NCT01505205
- Volunteers
- 60 people
- Sponsor
- Guangxi Medical University
Acute Myeloid Leukemia, Chronic Myelomonocytic Leukemia
Olutasidenib for the Treatment of Patients With IDH1 Mutated AML, MDS or CMML After Donor Hematopoietic Cell Transplant
This phase I trial tests the safety, side effects, and effectiveness of olutasidenib in preventing the return of disease (relapse) in patients who have undergone donor (allogeneic) hematopoietic cell transplant for acute myeloid…
- Conditions
- Acute Myeloid Leukemia, Chronic Myelomonocytic Leukemia, Myelodysplastic Syndrome
- Trial name
- NCT06543381
- Testing
- Biospecimen Collection, Olutasidenib
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- City of Hope Medical Center
Aicardi Syndrome, Brain Disorders
Study of Selected X-Linked Disorders: Aicardi Syndrome
Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome.
- Trial name
- NCT00697411
- Testing
- Syndrome cause identification
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Baylor College of Medicine
Locally Advanced or Metastatic Non-Small Cell Lung Cancer, EGFR Exon20 Insertion Mutations
Real-World Effectiveness of Osimertinib for Patients With Non-Small Cell Lung Cancer
This study is a retrospective real-world study to evaluate the efficacy of Osimertinib for patients with advanced or metastatic EGFR 20exon insertion mutation (20ins) Non-Small Cell Lung Cancer.
- Trial name
- NCT05513664
- Testing
- Osimertinib
- Where
- 24 sites in China
- Volunteers
- 80 people
- Sponsor
- Shanghai JMT-Bio Inc.
Anesthesia
Validation of a Connected Patch, an Alternative to Conventional Monitoring
The hypothesis is that this connected patch could be used in surgical departments to detect early a cardiovascular or respiratory complication and therefore to treat it without delay.
- Trial name
- Patch (NCT04344093)
- Testing
- Patch validation
- Where
- France
- Sponsor
- CMC Ambroise Paré
Non-Small Cell Lung Cancer, NSCLC, KRAS, NRAS, HRAS-mutated NSCLC
Study of RAS(ON) Inhibitors in Patients With Advanced RAS-mutated NSCLC
The purpose of this platform study is to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary antitumor activity of novel RAS(ON) inhibitors as a monotherapy or combined with Standard(s) of Care (SOC) or with…
- Conditions
- Non-Small Cell Lung Cancer, NSCLC, KRAS, NRAS, HRAS-mutated NSCLC, KRAS G12C-mutated Solid Tumors, Lung Cancer, Lung Cancer Stage IV, Advanced Solid Tumor, Cancer
- Trial name
- NCT06162221
- Testing
- RMC-6291, RMC-6236, Pembrolizumab
- Where
- 98 sites in United States, Australia and 11 more
- Volunteers
- 616 people
- Sponsor
- Revolution Medicines, Inc.
Cystic Fibrosis
A Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of VX-661/Ivacaftor in Pediatric Subjects With Cystic Fibrosis (CF)
This is a Phase 3, 2-part (Part A and Part B), open label, multicenter study evaluating the pharmacokinetic (PK), safety, and tolerability of multiple doses of tezacaftor (TEZ) in combination with ivacaftor (IVA) in subjects 6…
- Trial name
- NCT02953314
- Testing
- TEZ, TEZ/IVA, IVA
- Where
- 33 sites in United States, Canada
- Volunteers
- 83 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Low Back Pain, Mechanical
Pressure Intensity of a Chinese Massage Technique for Treating Low Back Pain
The Investigators conduct this study to compare two different massage methods with "buffalo horn technique": the deep massage and the superficial massage.
- Trial name
- NCT03610204
- Testing
- Buffalo horn technique
- Where
- Taiwan
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Taipei Medical University WanFang Hospital
NPMc+ AML
Oral Arsenic Trioxide for NPM1-mutated AML
A prospective open-label phase 2 study will be designed to assess the efficacy of oral arsenic trioxide plus azacitidine in preventing relapses in patients with NPM1-mutant AML.
- Trial name
- NCT04689815
- Testing
- Oral Arsenic Trioxide Formulation
- Where
- Hong Kong
- Volunteers
- 50 people
- Sponsor
- The University of Hong Kong
AML, Adult
Avapritinib Maintenance for AML With KIT Mutations
A multicenter, single-arm clinical study of evaluate the efficacy and safety of avapritinib as maintenance therapy following allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia patients with KIT mutation.
- Trial name
- NCT06765915
- Testing
- Avapritinib
- Where
- China
- Volunteers
- 47 people
- Sponsor
- Ruijin Hospital
Advanced Solid Tumors, Breast Cancer Recurrent
First-in-Human Study of ATX-559, an Oral Inhibitor of DHX9, in Patients With Advanced or Metastatic Solid Tumors, and Molecularly Defined Cancers
The goal of this study is to identify a safe and tolerated dose of the orally administered DHX9 inhibitor ATX-559. In addition, this study will evaluate the pharmacokinetics, pharmacodynamics and preliminary antitumor activity of…
- Conditions
- Advanced Solid Tumors, Breast Cancer Recurrent, Colorectal Cancer Metastatic, Colon Cancer
- Trial name
- NCT06625515
- Testing
- ATX-559
- Where
- 5 sites in United States
- Volunteers
- 17 people
- Sponsor
- Accent Therapeutics
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Hodgkin Lymphoma
Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well tazemetostat works in treating patients with brain tumors, solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that have come back (relapsed) or do not respond to…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Hodgkin Lymphoma, Ann Arbor Stage III Non-Hodgkin Lymphoma, Ann Arbor Stage IV Hodgkin Lymphoma
- Trial name
- NCT03213665
- Testing
- Tazemetostat
- Where
- 117 sites in United States, Puerto Rico
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Non-Small Cell Lung Cancer
Study For Patients With NSCLC EGFR Mutations (Del 19 or L858R +/- T790M)
This is a Phase 1/2 study of PF-06747775 as a single agent and in combination with other cancer treatments in patients with advanced EGFRm NSCLC.
- Trial name
- NCT02349633
- Testing
- PF-06747775, Palbociclib, Avelumab
- Where
- 15 sites in United States, Australia and 2 more
- Volunteers
- 65 people
- Sponsor
- Pfizer
Skin Wound, Burns
StrataGraft® Skin Tissue as an Alternative to Autografting Deep Partial-Thickness Burns
The proposed study is designed as a phase Ib open-label, dose-escalation, multicenter study evaluating the safety, tolerability, and efficacy of StrataGraft skin tissue in promoting the healing of the deep partial-thickness…
- Conditions
- Skin Wound, Burns, Trauma-related Wound
- Trial name
- NCT01437852
- Testing
- StrataGraft Skin Tissue
- Where
- 6 sites in United States
- Volunteers
- 30 people
- Sponsor
- Stratatech, a Mallinckrodt Company
Dystrophic Epidermolysis Bullosa
Study of PTW-002 in Patients With Dominant or Recessive Dystrophic Epidermolysis Bullosa Due to Mutation(s) in Exon 73 of the COL7A1 Gene
A double-blind, randomized, intra-patient placebo- controlled, multiple dose study of PTW-002 evaluating safety, proof of mechanism, preliminary efficacy, and systemic exposure in patients with Dominant Dystrophic Epidermolysis…
- Trial name
- NCT05529134
- Testing
- PTW-002 10 mg/g gel
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Phoenicis Therapeutics
Myelodysplastic Syndromes
Comprehensive Molecular and Clinical Evaluation of Pediatric and Adult MDS
Background: Myelodysplastic syndromes (MDS) occur when the cells that make blood cells are abnormal. There are limited treatment options for MDS.
- Trial name
- NCT05350748
- Where
- United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Non-Small Cell Lung Cancer
A Study of BL-B01D1 and Almonertinib in Patients With Resectable EGFR+ Stage II-IIIB NSCLC
This is a Phase II, open-labeled, single-arm, study of neoadjuvant BL-B01D1in combination with Almonertinib followed by adjuvant Almonertinib for the treatment of Patients with EGFR-Mutation Positive Stage II-IIIB Resectable…
- Trial name
- NCT06951464
- Testing
- BL-B01D1, Almonertinib
- Where
- China
- Volunteers
- 40 people
- Sponsor
- Sichuan University
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