Clinical trials: Mutations
Chronic Pancreatitis, Genetic Mutation
An Observational Study on the Natural Course of Chronic Pancreatitis
To explore the impact on genetic and environmental factors for clinical manifestation, and the progression of chronic pancreatitis, including development of pancreatic insufficiency and other complications.
- Conditions
- Chronic Pancreatitis, Genetic Mutation, Smoking, Tobacco, Drinking, Alcohol
- Trial name
- NCT04574297
- Testing
- smoking and alcohol assumption, genetic sequencing
- Volunteers
- 798 people
- Sponsor
- Changhai Hospital
Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood
A Prospective Multicenters Clinical Cohort Study of Stratified Treatment of Chinese Children With LBL
With the development of molecular biology and precise medical treatment, new challenges have been raised in the diagnosis and treatment of non-Hodgkin lymphoma (NHL) in children.
- Conditions
- Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood, PTEN Loss, NOTCH1 Gene Mutation
- Trial name
- NCT03971318
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Sun Yat-sen University
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Mastocytosis, Anaphylaxis
Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing
This study will 1) identify characteristics of bone marrow mast cells in patients with unexplained anaphylaxis and flushing or with mastocytosis and 2) determine whether mastocytosis might be the underlying cause of unexplained…
- Trial name
- NCT00047918
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
KMT2A-rearranged, NPM1-mutant Refractory or Relapsed AML
Ziftomenib + Mezigdomide in Adolesc. and Adults w/ R/R AML
The purpose of this study is to evaluate the safety and tolerability of mezigdomide in combination with ziftomenib in adolescent and adult participants with either KMT2A-rearranged (KMT2A-r) or NPM1-mutant relapsed or refractory…
- Trial name
- NCT07355335
- Testing
- Ziftomenib, Mezigdomide
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Massachusetts General Hospital
HIV/AIDS
Characteristics and Outcomes of Patients Who Received Etravirine and/or Darunavir
The objectives of this data collection activity are to: 1. Describe the baseline demographics, clinical and laboratory profile of patients who ever received darunavir (DRV) and/or etravirine (ETR), at the time of initiation on…
- Trial name
- NewHorizon (NCT04194021)
- Where
- 5 sites in Cameroon, Eswatini and 3 more
- Volunteers
- 871 people, healthy volunteers welcome
- Sponsor
- Elizabeth Glaser Pediatric AIDS Foundation
Breast Cancer, Cervical Cancer
Study of DNA Mutations in Predicting the Effect of External-Beam Radiation Therapy in Patients With Early Breast Cancer, Localized Prostate Cancer, or Gynecological Cancer
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Conditions
- Breast Cancer, Cervical Cancer, Endometrial Cancer, Fallopian Tube Cancer
- Trial name
- NCT00601406
- Testing
- gene expression analysis, gene rearrangement analysis, polymorphism analysis
- Where
- 11 sites in United Kingdom
- Volunteers
- 2,200 people
- Sponsor
- The Christie NHS Foundation Trust
Mitochondrial Disease, Chronic Metabolic Disorder
Energy Requirements in Mitochondrial Disease
Metabolic diseases and mitochondrial disorders are caused by genetic mutation which lead to disruptions in energy producing pathways in our body.
- Trial name
- NCT01776918
- Where
- Canada
- Volunteers
- 23 people
- Sponsor
- University of British Columbia
Cystic Fibrosis
Rollover Study of Ivacaftor in Subjects With Cystic Fibrosis and a Non G551D CFTR Mutation
The purpose of this study is to evaluate the safety of long-term ivacaftor treatment in participants with cystic fibrosis (CF) from Studies 110 (NCT01614457), 111 (NCT01614470), and 113 (NCT01685801).
- Trial name
- KONTINUE (NCT01707290)
- Testing
- Ivacaftor
- Where
- 38 sites in United States, Belgium and 2 more
- Volunteers
- 125 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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)
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
Phosphatase and TENsin homolog (PTEN) gene germline mutations are associated with a spectrum of clinical manifestations characterized by neurocognitive deficits, intellectual disability, autism symptomatology, skin lesions…
- Trial name
- NCT02991807
- Testing
- RAD001
- Where
- 3 sites in United States
- Volunteers
- 46 people
- Sponsor
- Boston Children's Hospital
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Glioma, High Grade
A Phase I Clinical Trial of a mRNA Vaccine for Recurrent or Progressive High-grade Glioma
This clinical trial is designed to evaluate the safety and efficacy of a universal mRNA vaccine targeting a panel of glioma-associated mutations in patients with recurrent or progressive high-grade glioma.
- Trial name
- NCT07306299
- Testing
- Glioma-related multi-target mRNA vaccines
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Junctional Epidermolysis Bullosa
Optimizing IV Gentamicin in JEB
Herlitz junctional epidermolysis bullosa (H-JEB), an incurable and fatal inherited skin disease, is caused by loss-of-function mutations in LAMA3, LAMB3 and LAMC2.
- Trial name
- NCT04140786
- Testing
- Gentamicin Sulfate, Injectable
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Southern California
Cystic Fibrosis
Evaluation of Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) in Cystic Fibrosis Subjects Without an F508del Mutation
This study evaluated the efficacy, pharmacodynamics (PD) and safety of ELX/TEZ/IVA in participants 6 years of age and older with a non-F508del ELX/TEZ/IVA-responsive cystic fibrosis transmembrane conductance regulator gene (CFTR)…
- Trial name
- NCT05274269
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 90 sites in Austria, Belgium and 13 more
- Volunteers
- 307 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
Rollover Study to Evaluate the Safety and Efficacy of Long-term Treatment With Lumacaftor in Combination With Ivacaftor
Study 110 is a Phase 3, multicenter study in subjects aged 6 years and older with cystic fibrosis (CF) who are homozygous for the F508del-CF transmembrane conductance regulator (CFTR) mutation and who participated in Study 109…
- Trial name
- NCT02544451
- Testing
- LUM/IVA
- Where
- 60 sites in United States, Australia and 7 more
- Volunteers
- 246 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
HIV Infections
Comparison of Three Anti-HIV Drug Combinations in HIV-Infected Patients With No Symptoms of the Disease
To validate that the alteration of codon 215 of reverse transcriptase in plasma virus precedes the increase in viral burden as measured in the peripheral blood and the decline in CD4 count that have been observed in association…
- Trial name
- NCT00001045
- Testing
- Nevirapine, Zidovudine, Didanosine
- Where
- 59 sites in United States, Puerto Rico
- Volunteers
- 300 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Helicobacter Pylori Infection
The Prevalence of Family-unit Helicobacter Pylori Infection in Jiangsu
To assess Family-unit Helicobacter Pylori Infection rates and antimicrobial resistance rates in Jiangsu,China
- Trial name
- NCT05654857
- Testing
- PCR test in the stool
- Where
- 16 sites in China
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Nanjing First Hospital, Nanjing Medical University
Heterozygous Familial Hypercholesterolemia
Trial Assessing Efficacy, Safety and Tolerability of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibition in Paediatric Subjects With Genetic Low-Density Lipoprotein (LDL) Disorders
A study to assess safety and efficacy of evolocumab (AMG-145) in paediatric subjects aged 10-17 years diagnosed with heterozygous familial hypercholesterolemia.
- Trial name
- HAUSER-RCT (NCT02392559)
- Testing
- Evolocumab
- Where
- 66 sites in United States, Australia and 24 more
- Volunteers
- 158 people
- Sponsor
- Amgen
Glucocorticoids Deficiency
Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation
Nicotinamide nucleotide transhydrogenase (NNT) mutations cause glucocorticoid and mineralocorticoid deficiencies through decreased detoxification of reactive oxygen species (ROS) in adrenocortical cells.
- Trial name
- NCT02838472
- Testing
- Ascorbic Acid
- Where
- Israel
- Volunteers
- 3 people
- Sponsor
- Hadassah Medical Organization