Clinical trials: Mutations
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
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
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)
Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)
Personalized Antisense Oligonucleotide for A Single Participant With UBTF Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense…
- Trial name
- NCT07588581
- Testing
- nL-UBTF-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Cystic Fibrosis
Energy Balance and Weight Gain With Ivacaftor Treatment
Ivacaftor is a novel, FDA approved new therapy that addresses Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunctions in subjects with Cystic fibrosis (CF) and "gating mutations".
- Trial name
- NCT02141464
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's Hospital of Philadelphia
Non-small Cell Lung Cancer
Survival Validation and Gene Mutations of N Descriptors in the Ninth Edition of the TNM Classification for Lung Cancer
The International Association for the Study of Lung Cancer Staging Committee recently unveiled the ninth edition of TNM staging system for lung cancer.
- Trial name
- NCT06349252
- Testing
- Radical resection
- Where
- China
- Volunteers
- 1,263 people
- Sponsor
- Fudan University
Usher Syndrome
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500.
- Trial name
- MYO7A (NCT07278843)
- Testing
- Vision tests, Retinal imaging, Questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
High Grade Glioma, Astrocytoma
Study of Olutasidenib and Temozolomide in HGG
The goal of this study is to determine the efficacy of the study drug olutasidenib to treat newly diagnosed pediatric and young adult patients with a high-grade glioma (HGG) harboring an IDH1 mutation.
- Conditions
- High Grade Glioma, Astrocytoma, Astrocytoma, Grade III, Astrocytoma, Grade IV
- Trial name
- NCT06161974
- Testing
- Olutasidenib + TMZ
- Where
- 20 sites in United States, Australia and 5 more
- Volunteers
- 60 people
- Sponsor
- Rigel Pharmaceuticals
Non-Small Cell Lung Cancer, Medullary Thyroid Cancer
A Study of Selpercatinib (LOXO-292) in Participants With Advanced Solid Tumors, RET Fusion-Positive Solid Tumors, and Medullary Thyroid Cancer (LIBRETTO-001)
This is an open-label, first-in-human study designed to evaluate the safety, tolerability, pharmacokinetics (PK) and preliminary anti-tumor activity of selpercatinib (also known as LOXO-292) administered orally to participants…
- Conditions
- Non-Small Cell Lung Cancer, Medullary Thyroid Cancer, Colon Cancer, Any Solid Tumor
- Trial name
- LIBRETTO-001 (NCT03157128)
- Testing
- LOXO-292
- Where
- 85 sites in United States, Australia and 14 more
- Volunteers
- 857 people
- Sponsor
- Eli Lilly and Company
COL4A1\2, COL4A1-Related Brain Small Vessel Disease With Haemorrhage
COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
This observational and diagnostic study aims to better understand the clinical features and biological mechanisms associated with mutations in the COL4A1 and COL4A2 genes, which are known to cause a rare inherited small-vessel…
- Trial name
- NCT07374913
- Testing
- Ophtalmological and cardiological screening
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- Meyer Children's Hospital IRCCS
Triple Negative Breast Cancer
A Trial Using ctDNA Blood Tests to Detect Cancer Cells After Standard Treatment to Trigger Additional Treatment in Early Stage Triple Negative Breast Cancer Patients
c-TRAK TN is a multi-centre phase II study, consisting of a circulating tumour DNA (ctDNA) surveillance component and a therapeutic component.
- Trial name
- c-TRAK-TN (NCT03145961)
- Testing
- Pembrolizumab
- Where
- 17 sites in United Kingdom
- Volunteers
- 208 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Recurrent Low Grade Astrocytoma, Recurrent WHO Grade 2 Glioma
A Study to Compare Treatment With the Drug Selumetinib Alone Versus Selumetinib and Vinblastine in Patients With Recurrent or Progressive Low-Grade Glioma
This phase III trial investigates the best dose of vinblastine in combination with selumetinib and the benefit of adding vinblastine to selumetinib compared to selumetinib alone in treating children and young adults with…
- Conditions
- Recurrent Low Grade Astrocytoma, Recurrent WHO Grade 2 Glioma, Refractory Low Grade Astrocytoma, Refractory Low Grade Glioma
- Trial name
- NCT04576117
- Testing
- Biospecimen Collection, Magnetic Resonance Imaging, Quality-of-Life Assessment
- Where
- 101 sites in United States, Canada
- Volunteers
- 300 people
- Sponsor
- National Cancer Institute (NCI)
Gene Mutation in Infantile Onset Diabetes Mellitus
Genetic Study for Infantile Onset Diabetes Mellitus
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
- Trial name
- NCT03519217
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Shimaa Kamal
Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
The purpose of this trial is to study the genetic and phenotypic aspects of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), and determine the impact of genetic testing in clinical practice.
- Trial name
- DVDA (NCT00999947)
- Where
- France
- Volunteers
- 351 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Transfusion-dependent Beta-Thalassemia
Deciphering Effects of Thalidomide on Red Blood Cells in Transfusion Dependents Beta Thalassemia Patients
The goal of this Non-Randomized Clinical Trial is to determine the effects of thalidomide on red blood cells in transfusion dependent beta thalassemia patients.
- Trial name
- NCT06146478
- Testing
- Thalidomide
- Where
- Pakistan
- Volunteers
- 200 people
- Sponsor
- Blood Care Clinic
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Stroke, Brain Ischemia
The Association of Omentin and Ischemic Stroke
This observational study aims to research whether there is a relationship between omentin and ischemic stroke on the aspects of incidence, severity, and recovery etc.
- Conditions
- Stroke, Brain Ischemia, Adipokines, Mutation
- Trial name
- NCT03125759
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Xi'an No.3 Hospital
B Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia, BCR-ABL1-Like
Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations
This randomized phase III trial studies how well combination chemotherapy works in treating young patients with newly diagnosed B acute lymphoblastic leukemia that is likely to come back or spread, and in patients with…
- Conditions
- B Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia, BCR-ABL1-Like, Central Nervous System Leukemia, Testicular Leukemia
- Trial name
- NCT02883049
- Testing
- Clofarabine, Cyclophosphamide, Cytarabine
- Where
- 239 sites in United States, Australia and 5 more
- Volunteers
- 5,949 people
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis
A Study of VX-659 Combination Therapy in CF Subjects Homozygous for F508del (F/F)
This study will evaluate the efficacy of VX-659 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous for the F508del mutation (F/F).
- Trial name
- NCT03460990
- Testing
- VX-659/TEZ/IVA, TEZ/IVA, IVA
- Where
- 46 sites in United States, Australia and 4 more
- Volunteers
- 116 people
- Sponsor
- Vertex Pharmaceuticals Incorporated