Clinical trials: Mutation
Essential Thrombocythemia (ET)
Exploratory Multi-centre Trial In Patients With ET Treated With XAGRID®
This study is hypothesis-generating to explore the impact of JAK2 (V617F) mutation status on the treatment response to anagrelide hydrochloride
- Trial name
- EMIX (NCT01352585)
- Testing
- Anagrelide hydrochloride
- Where
- 10 sites in Italy
- Volunteers
- 47 people
- Sponsor
- Shire
AML
Efficacy and Safety of ATO Plus ATRA in Nucleophosmin-1 Mutated Acute Myeloid Leukemia
In this open-label, randomized, prospective clinical trial, nucleophosmin-1(NPM1) mutated acute myeloid leukemia (AML) patients who have reached CR are randomized into two groups.The control group receive high-dose…
- Trial name
- NCT03031249
- Testing
- Cytarabine, all-trans retinoic acid, Arsenic Trioxide
- Where
- China
- Volunteers
- 80 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Women With Suspected or Confirmed Gynecological Disease
DOvEEgene Fleur: New Uterine Sampling Tool
This study is related to a previous study from the same group which started in 2014 (NTC02288676, McGill REB A08-M79-13B, MUHC REB 2020-5945) to develop a clinically implementable screening test -DovEEgene: developing and…
- Trial name
- NCT04258449
- Testing
- DOvEEgene Fleur Sampling
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- McGill University
Prostate Cancer, Prostate Carcinoma
The Study of Olaparib in Newly Diagnosed mCRPC Patients With HRR Gene Mutation
This is a multi-center, single-arm, prospective study to assess the efficacy and safety of Olaparib in men with newly diagnosed metastatic castration-resistant prostate cancer (mCRPC) who carried homologous recombination repair…
- Conditions
- Prostate Cancer, Prostate Carcinoma, Metastatic Castration-resistant Prostate Cancer
- Trial name
- PROspect (NCT05262608)
- Testing
- Olaparib
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
Opioid Dependence, Methadone Toxicity
KCNH2 Polymorphisms on the QTc Interval in Kelantanese Malays Patients Receiving Methadone Maintenance Therapy (MMT)
Methadone maintenance therapy (MMT) is one of the modalities to prevent HIV transmission among injected drug users, particularly in opioid-dependent users.
- Conditions
- Opioid Dependence, Methadone Toxicity, HERG Gene Mutation
- Trial name
- NCT03603158
- Where
- Malaysia
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Universiti Sains Malaysia
Metastatic Non Small Cell Lung Cancer, Advanced Non Small Cell Lung Cancer
Phase 3 Study of MRTX849 (Adagrasib) vs Docetaxel in Patients With Advanced Non-Small Cell Lung Cancer With KRAS G12C Mutation
This Phase 3 study will evaluate the efficacy of the investigational agent MRTX849 (adagrasib) versus docetaxel in patients who have been previously treated for metastatic NSCLC with a KRAS G12C mutation.
- Trial name
- KRYSTAL-12 (NCT04685135)
- Testing
- MRTX849, Docetaxel
- Where
- 380 sites in United States, Australia and 22 more
- Volunteers
- 453 people
- Sponsor
- Mirati Therapeutics Inc.
Retinal Dystrophy
A Study of LX107 Gene Therapy in AIPL1-IRD Patients
Administering subretinal injection of LX107 injection (a gene therapy drug) to patients with retinal dystrophy caused by AIPL1 gene mutation to evaluate its efficacy and safety.
- Trial name
- NCT07063030
- Testing
- LX107 Injection
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
Cystic Fibrosis
A Study to Evaluate Multiple Doses of GLPG2222 in Adult Subjects With Cystic Fibrosis
This is a Phase IIa, multi-center, randomized, double-blind, placebo-controlled, parallel-group study to evaluate 4 different doses of GLPG2222 administered for 4 weeks to adult subjects with a confirmed diagnosis of CF and…
- Trial name
- NCT03119649
- Testing
- GLPG2222 50 mg, GLPG2222 100 mg, GLPG2222 200 mg
- Where
- 23 sites in United States, Belgium and 4 more
- Volunteers
- 59 people
- Sponsor
- Lakefront Biotherapeutics NV
Osteopetrosis
Gene-Modified Stem Cell Therapy for Children With Autosomal Recessive Osteopetrosis (ARO)
This is a non-randomized, one-arm, open label, single-center, phase I/II, prospective study, to assess safety, feasibility and efficacy of FT024 in 8 children (Age: ≥ 28 days and ≤ 2 years old, Body weight: ≥ 4 kg) affected by…
- Trial name
- ARO (NCT07665021)
- Testing
- FT024
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Fondazione Telethon
Non Small Cell Lung Cancer
Almonertinib Plus Chemotherapy as First-line Treatment in Patients With EGFR Concomitant Tumor Suppressor Gene Mutation
This is a multicenter, randomized, controlled, phase III study.
- Trial name
- ACROSS2 (NCT04500717)
- Testing
- Almonertinib, Almonertinib plus carboplatin and pemetrexed
- Where
- 5 sites in China
- Volunteers
- 460 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Chronic Myeloid Leukaemia Recurrent, Chronic Myeloid Leukemia, in Relapse
Myeloid Mutations Register in R/R CML
The aim of the study is to know the percentage of ABL mutations in patients with chronic myeloid leukemia that relapsed or are refractory to tyrosine-kinase inhibitors measured with a myeloid mutations panel by NGS.
- Trial name
- NCT05080829
- Testing
- Myeloid mutations measurement
- Where
- Mexico
- Volunteers
- 29 people
- Sponsor
- Grupo Cooperativo de Hemopatías Malignas
Solid Tumor
Dose Escalation Study of ARQ 736 in Adult Subjects With Advanced Solid Tumors Harboring BRAF and/or NRAS Mutations
This is an open-label, Phase 1, dose escalation study of oral ARQ 736 administered to subjects with advanced solid tumors harboring the mutation.
- Trial name
- NCT01225536
- Testing
- ARQ 736
- Where
- 4 sites in United States, Italy
- Volunteers
- 24 people
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Cystic Fibrosis
A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor
This is a Phase 3, randomized, double blind, placebo controlled, parallel group, multicenter study in people with cystic fibrosis (CF) who are homozygous for the F508del CF transmembrane conductance regulator (CFTR) gene mutation.
- Trial name
- NCT02347657
- Testing
- VX-661 Plus Ivacaftor Combination, Ivacaftor
- Where
- 74 sites in United States, Canada and 10 more
- Volunteers
- 510 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Medullary Thyroid Cancer, Infantile Myofibromatosis
A Study of Oral LOXO-292 (Selpercatinib) in Pediatric Participants With Advanced Solid or Primary Central Nervous System (CNS) Tumors
This is an open-label, multi-center Phase 1/2 study of oral LOXO-292 in pediatric participants with an activating rearranged during transfection (RET) alteration and an advanced solid or primary CNS tumor.
- Conditions
- Medullary Thyroid Cancer, Infantile Myofibromatosis, Infantile Fibrosarcoma, Papillary Thyroid Cancer
- Trial name
- LIBRETTO-121 (NCT03899792)
- Testing
- Selpercatinib
- Where
- 26 sites in United States, Australia and 9 more
- Volunteers
- 36 people
- Sponsor
- Eli Lilly and Company
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Long-Term Effects Secondary to Cancer Therapy
Tumor Nutritional Therapy in the First-line Treatment of Stage IV NSCLC
A Single-center, Randomized, Controlled Clinical Study Comparing the Efficacy and Safety of Tumor Nutritional Therapy Combined With Immune Checkpoint Inhibitors and Chemotherapy in the First-line Treatment of Stage IV NSCLC…
- Trial name
- NCT06356701
- Testing
- Cancer nutritional treatment regimen (Spirulina Bifidobacterium Capsules, Fish Oil Grape Seed Blueberry Soft Capsules, Ganoderma Spore Oil Soft Capsules)
- Where
- China
- Volunteers
- 120 people
- Sponsor
- The First Affiliated Hospital of Dalian Medical University
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Hypereosinophilic Syndrome, Systemic Mastocytosis
Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes
This trial is for various types of malignancies which may depend on certain enzymes (tyrosine kinases) for growth. The objective of this study is to assess to what extent imatinib mesylate blocks these enzymes and to assess the…
- Conditions
- Hypereosinophilic Syndrome, Systemic Mastocytosis, Chronic Myelomonocytic Leukemia, Dermatofibrosarcoma
- Trial name
- NCT00171912
- Testing
- imatinib mesylate
- Where
- Australia
- Volunteers
- 38 people
- Sponsor
- Novartis Pharmaceuticals
Carcinoma, Non-Small-Cell Lung
A Study of Intermittent, High-dose Afatinib to Determine the Maximal Tolerated Dose and Assess Activity of This Dose Against Non-small Cell Lung Cancer With T790M Mutations
This trial is divided into Part A and Part B. The primary objective of Part A is to establish the Maximal Tolerated Dose of intermittent high dose afatinib.
- Trial name
- NCT01647711
- Testing
- Dose escalation followed by treatment with MTD
- Where
- 2 sites in United States
- Volunteers
- 35 people
- Sponsor
- Boehringer Ingelheim
Crohn Disease
Search for New Genetic Mutations Major Effect in Crohn's Disease
This study highlight genetics mutations with major effect in Crohn's Disease (CD) by WES in individuals affected and healthy individuals from EPIMAD Inserm InVS registry families.
- Trial name
- MC-WES (NCT02851134)
- Testing
- genetic analysis, blood and stools samples
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Lille