Clinical trials: Gene Mutations
Primary Raynaud's Phenomenon (PR), Genetic Mutations Causing PR
Prospective Multicenter Study on the Identification of Genetic Abnormalities Predisposing to Vasospasm From a Privileged Model: the Primary Raynaud's Phenomenon
Vasospasm is a transient contraction causing a decrease in caliber of a vessel and thus a decrease in vascularization in a vascular territory leading to suffering of tissue in the sector concerned.
- Conditions
- Primary Raynaud's Phenomenon (PR), Genetic Mutations Causing PR, Study of Patients and Their Relatives (With or Without Primary PR)
- Trial name
- RAY-GENE (NCT02202291)
- Testing
- Demonstration of genetic mutations causing Raynaud's phenomenon
- Where
- 6 sites in France
- Volunteers
- 258 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Parathyroid Disease, Hyperparathyroidism
Gene Expression in Hyperparathyroidism
Objectives: 1. To better define the differences in molecular genetics of parathyroid tumors in patients with MEN1, single gland parathyroid disease in patients less than 50 years old and single gland disease in patients greater…
- Trial name
- NCT03044600
- Testing
- Chart Review, HRPT2 Mutation Evaluation
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- M.D. Anderson Cancer Center
Acute Myeloid Leukemia, IDH1 Gene Mutation
Prevalence and Clinical Effect of IDH1/2 Mutations in Patients With Acute Myeloid Leukemia
Among the most notable cancer genome-wide sequencing discoveries in recent years was the finding of mutation hot-spots in the isocitrate dehydrogenase (IDH) genes in grade II/III astrocytomas and oligodendrogliomas and in…
- Conditions
- Acute Myeloid Leukemia, IDH1 Gene Mutation, IDH2 Gene Mutation
- Trial name
- Euro_IDH_AML (NCT04369287)
- Where
- Italy
- Volunteers
- 654 people
- Sponsor
- Istituto Clinico Humanitas
Non Small Cell Lung Cancer
Phase 2 Study of AUY922 in NSCLC Patients With Exon 20 Insertion Mutations in EGFR
This research study is a Phase II clinical trial, which tests the safety and effectiveness of an investigational drug to learn whether the drug works in treating a specific cancer.
- Trial name
- NCT01854034
- Testing
- AUY922
- Where
- 4 sites in United States
- Volunteers
- 29 people
- Sponsor
- Massachusetts General Hospital
PIK3CA Mutations, Advanced Solid Tumors, Adult
A Study of Mutant Selective-Inhibitor (CGT6297), in Patients With Advanced Solid Tumors
This is a Phase 1, two-part, open-label, nonrandomized, dose-escalation and signal-seeking study of CGT6297, evaluating the safety, tolerability, PK, pharmacodynamic (what the drug does to the body), and antitumor activity of…
- Conditions
- PIK3CA Mutations, Advanced Solid Tumors, Adult, Endometrial Cancer, HR Positive/HER-2 Negative Breast Cancer
- Trial name
- NCT07383506
- Testing
- CGT6297
- Where
- 12 sites in United States
- Volunteers
- 90 people
- Sponsor
- Cogent Biosciences, Inc.
Recurrent Childhood Malignant Solid Neoplasm, Recurrent Childhood Neuroblastoma
Testing the Addition of an Anti-Cancer Drug, Daraxonrasib, for Relapsed or Refractory Solid Tumors With RAS Mutations
This phase I/II trial tests the safety, side effects, best dose and how well giving daraxonrasib works for the treatment of pediatric patients with solid tumors with RAS mutations that has come back after a period of improvement…
- Conditions
- Recurrent Childhood Malignant Solid Neoplasm, Recurrent Childhood Neuroblastoma, Recurrent Childhood Rhabdomyosarcoma, Refractory Childhood Malignant Solid Neoplasm
- Trial name
- NCT07819838
- Testing
- Biospecimen Collection, Bone Marrow Aspiration, Bone Marrow Biopsy
- Volunteers
- 77 people
- Sponsor
- Children's Oncology Group
Pentalogy of Cantrell
Mutations in Genes Associated With Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from patients with Pentalogy of Cantrell (POC) and other inherited diseases that may involve mutations in non-muscle myosin II-B heavy chain (MYH10).
- Trial name
- NCT00083499
- Where
- 2 sites in United States
- Volunteers
- 59 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Prostate Cancer, BRCA1 Mutation
Study of Neoadjuvant PARP Inhibition Followed by Radical Prostatectomy in Patients With Unfavorable Intermediate-Risk or High-Risk Prostate Cancer With Select HRR Gene Alterations
Phase 2 open-label, single-arm clinical trial evaluating the efficacy and safety of neoadjuvant olaparib + LHRH agonist administered for 6 months prior to radical prostatectomy (RP) in men with unfavorable intermediate-risk or…
- Conditions
- Prostate Cancer, BRCA1 Mutation, BRCA2 Mutation, Prostatic Adenocarcinoma
- Trial name
- NePtune (NCT05498272)
- Testing
- Olaparib, LHRH agonist
- Where
- 6 sites in United States
- Volunteers
- 32 people
- Sponsor
- Rana McKay, MD
Anaplastic Astrocytoma, Glioblastoma
Veliparib, Radiation Therapy, and Temozolomide in Treating Patients With Newly Diagnosed Malignant Glioma Without H3 K27M or BRAFV600 Mutations
This phase II trial studies how well veliparib, radiation therapy, and temozolomide work in treating patients with newly diagnosed malignant glioma without H3 K27M or BRAFV600 mutations.
- Conditions
- Anaplastic Astrocytoma, Glioblastoma, Malignant Glioma
- Trial name
- NCT03581292
- Testing
- Radiation Therapy, Temozolomide, Veliparib
- Where
- 163 sites in United States, Australia and 3 more
- Volunteers
- 38 people
- Sponsor
- Children's Oncology Group
Advanced/Metastatic Non-Small Cell Lung Cancer (NSCLC)
YK-029A as First-Line Treatment Versus Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer (NSCLC) With EGFR Exon 20 Insertion Mutations
The purpose of this study is to compare the effectiveness of YK-029A as first-line treatment with that of platinum-based chemotherapy in participants with locally advanced or metastatic non-small cell lung cancer (NSCLC) whose…
- Trial name
- NCT05767892
- Testing
- YK-209A tablet, Pemetrexed+carboplatin/Cisplatin
- Where
- 52 sites in China
- Volunteers
- 350 people
- Sponsor
- Suzhou Puhe Pharmaceutical Technology Co., LTD
Metabolic Syndrome, Insulin Resistance
Effect of Blueberry Consumption on Metabolic Syndrome & DNA Damage
Obesity usually brings with it disturbances in the body that increase the chances of developing serious diseases like diabetes and cancer.
- Conditions
- Metabolic Syndrome, Insulin Resistance, DNA Damage
- Trial name
- NCT02075307
- Testing
- Blueberry Powder
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Parkinson Disease, GBA Gene Mutation
Ambroxol as a Disease-modifying Treatment in GBA-PD
The present multicenter, randomized, double-blind, placebo-controlled clinical trial will investigate whether the prolonged administration of high-dose oral Ambroxol over 52 weeks is safe, tolerable, able to change…
- Trial name
- AMBITIOUS (NCT05287503)
- Testing
- Ambroxol Hydrochloride
- Where
- 3 sites in Italy
- Volunteers
- 65 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Brain Tumor, Cancer
000860: A Phase I/II Study of Zotiraciclib for Recurrent Malignant Gliomas With Isocitrate Dehydrogenase 1 or 2 (IDH1 or IDH2) Mutations
Protocol # 000860 Background: Diffuse gliomas are tumors that affect the brain and spinal cord. Gliomas that develop in people with certain gene mutations (IDH1 or IDH2) are especially aggressive. Better treatments are needed.
- Trial name
- NCT05588141
- Testing
- Zotiraciclib
- Where
- 2 sites in United States
- Volunteers
- 96 people
- Sponsor
- National Cancer Institute (NCI)
Inherited Retinal Diseases
Safety and Efficacy Study of PUMCH-E101 Injection in Subjects with RDH12 Retinopathy
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in subjects with RDH12 retinopathy.
- Trial name
- NCT06749639
- Testing
- PUMCH-E101 Injection（Low dose）, PUMCH-E101 Injection（High dose）
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Peking Union Medical College Hospital
Solid Malignancy, Solid Tumor
Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations
The purpose of this research study is to look at participants with solid tumor malignancies and specific mutations respond to treatment with everolimus.
- Trial name
- NCT02352844
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Washington University School of Medicine
Prostate Cancer
Prevalence of the c.853delT Mutation of the HOXB13 Gene in Prostate Cancer in Martinique
In Martinique, prostate cancer incidence rates are nowadays among the highest worldwide with a high incidence of early-onset and familial forms.
- Trial name
- HOXB13_Mart (NCT05231915)
- Testing
- HOXB13 c.853delT mutation
- Where
- Martinique
- Volunteers
- 465 people
- Sponsor
- University Hospital Center of Martinique
FLT3-ITD Mutation, FLT3/TKD Mutation
Individual Patient Compassionate Use of Crenolanib
Compassionate use of crenolanib for patients with serious life-threatening illness that have exhausted all available therapies used to treat the disease, with no other viable therapy options, who is not eligible for clinical…
- Conditions
- FLT3-ITD Mutation, FLT3/TKD Mutation, PDGFR-Alpha D842V, PDGFRA Gene Amplification
- Trial name
- NCT03620318
- Testing
- Crenolanib besylate
- Where
- Italy
- Sponsor
- Arog Pharmaceuticals, Inc.
Arsenic Trioxide, p53 Mutations
Arsenic Trioxide for Structural p53 Mutations
TP53 is the most frequently mutated gene in cancer, but these mutations remain therapeutically non-actionable. Previous study reported arsenic trioxide could rescue structural p53 mutations, endowing p53 mutations with…
- Conditions
- Arsenic Trioxide, p53 Mutations, Refractory Cancer, Intractable Cancer
- Trial name
- NCT04695223
- Testing
- Arsenic Trioxide
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shanghai Changzheng Hospital
Carcinoma, Non-Small-Cell Lung
GIOTRIF in First Line Therapy of Advanced NSCLC With EGFR-mutations
This observational study will investigate the efficacy, safety, tolerability and symptom control of GIOTRIF (Afatinib) in daily routine first-line therapy in patients with locally advanced or metastatic NSCLC harboring…
- Trial name
- NCT02047903
- Testing
- Afatinib
- Where
- Germany
- Volunteers
- 161 people
- Sponsor
- Boehringer Ingelheim
Locally Advanced Urothelial Carcinoma, Metastatic Urothelial Carcinoma
Safety and Preliminary Anti-Tumor Activity of TYRA-300 in Advanced Urothelial Carcinoma and Other Solid Tumors With FGFR3 Gene Alterations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary antitumor activity of TYRA-300 in cancers with FGFR3 activating gene alterations, including locally advanced/metastatic…
- Conditions
- Locally Advanced Urothelial Carcinoma, Metastatic Urothelial Carcinoma, Solid Tumor, Urothelial Carcinoma
- Trial name
- SURF301 (NCT05544552)
- Testing
- TYRA-300
- Where
- 19 sites in United States, Australia and 2 more
- Volunteers
- 310 people
- Sponsor
- Tyra Biosciences, Inc