Clinical trials: Gene Mutation
Insect Proteins
Sustainable Diets in Families in Copenhagen
SUSINCHAIN investigates the impact of exposing families (an adult and a child) to meals with alternative proteins (insect-based or plant-based products) on dietary pattern, intake of meat and total protein.
- Trial name
- SUSINCHAIN (NCT05156853)
- Testing
- Insect menus, Plant menus
- Where
- Denmark
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
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
Predisposition, Genetic, Cancer
Investigating the Role of Genetics in Disease Predisposition
Gametogenesis is the production of sperm and eggs; it takes place through the process of meiosis. Gametogenesis is subject to the acquisition of mutations as with other processes in the body.
- Conditions
- Predisposition, Genetic, Cancer, Mutation, Fertility Disorders
- Trial name
- NCT06584994
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Generalized Pustular Psoriasis
Biologic Therapy for Generalized Pustular Psoriasis
The investigators aim to compare the efficacy and safety of secukinumab and ustekinumab in patients with generalized pustular psoriasis (GPP), and to explore the impact of genetic mutation types on clinical efficacy.
- Trial name
- NCT06391996
- Testing
- After exclusion of relevant contraindications, participants received subcutaneous ustekinumab/secukinumab therapy.
- Where
- China
- Volunteers
- 65 people
- Sponsor
- Chao Ji
Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Advanced or Metastatic Solid Tumors With Germline PTEN Inactivating Mutations
TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Mutations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor activity of TAS-117 in patients with advanced or metastatic solid tumors (excluding primary brain tumors)…
- Trial name
- NCT04770246
- Testing
- TAS-117
- Where
- 8 sites in United States, Austria and 2 more
- Volunteers
- 17 people
- Sponsor
- Taiho Oncology, Inc.
Inherited Retinal Dystrophy Associated With RPE65 Mutations
Safety and Tolerability of LX101 for Inherited Retinal Dystrophy Associated With RPE65 Mutations
The purpose of the study is to evaluate the safety, tolerability and efficacy of LX101 in subjects with biallelic RPE65 mutation-associated inherited retinal dystrophy.
- Trial name
- NCT06196827
- Testing
- LX101
- Where
- 2 sites in China
- Volunteers
- 9 people
- Sponsor
- Innostellar Biotherapeutics Co.,Ltd
Pseudohermaphroditism
Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency
To disclose the molecular pathology of our 3 families with 17βHSD3 deficiency.
- Trial name
- NCT00173654
- Testing
- blood drawing
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- National Taiwan University Hospital
Brain and Central Nervous System Tumors
Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors
RATIONALE: Drugs used in chemotherapy work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing.
- Trial name
- NCT00392886
- Testing
- carboplatin, cisplatin, cyclophosphamide
- Where
- 37 sites in United States, Australia and 3 more
- Volunteers
- 120 people
- Sponsor
- Children's Hospital Los Angeles
Amaurosis of Leber, Retinal Diseases
Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations
A recombinant adeno-associated virus serotype 2 (rAAV2) vector has been altered to carry the human RPE65 (hRPE65) gene. This vector has been shown to restore vision in animal models that resemble human RPE65-associated Leber…
- Trial name
- LCA (NCT00481546)
- Testing
- rAAV2-CBSB-hRPE65
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- University of Pennsylvania
Breast Cancer - ER+, HER2-, PIK3CA Gene Mutation
PI3K Pathway Activation Markers in ER-Positive, HER2-Negative Breast Cancer: A Clinicopathologic Study
The goal of this observational study is to examine whether markers of PI3K pathway activation are associated with endocrine therapy response and clinicopathologic features in estrogen receptor-positive, HER2-negative breast…
- Trial name
- p-AKT p-S6 (NCT07387861)
- Testing
- Not applicable- observational study
- Volunteers
- 70 people
- Sponsor
- Assiut University
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Trial name
- NCT06747572
- Where
- 45 sites in United States, Belgium and 7 more
- Volunteers
- 401 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Monogenic Obesity
A Study Evaluating Mibavademab Treatment of Obesity Due to Leptin (LEP) Gene Mutations in Children, Adolescents and Adults
This study is researching an experimental drug called mibavademab. The study is focused on patients with a condition called monogenic obesity.
- Trial name
- NCT07220772
- Testing
- Mibavademab
- Where
- 3 sites in Germany, Turkey (Türkiye)
- Volunteers
- 4 people
- Sponsor
- Regeneron Pharmaceuticals
Inflammatory Bowel Disease
Telomere Repair Gene Mutation in Inflammatory Bowel Disease
This study will evaluate and compare the genes of the telomere repair complex in healthy control subjects, patients with blood diseases, and patients with inflammatory bowel disease to identify what, if any, changes are…
- Trial name
- NCT00353639
- Where
- United States
- Volunteers
- 95 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Physical Activity, Mental Health Issue
1:1 and Group-based Exercise Intervention for Post-secondary Student Mental Health and Well-being
Post-secondary students report alarming rates of feeling overwhelmed, hopeless, anxious, and depressed. To better support student mental health, there is a well-documented need to improve the range and quality of mental health…
- Trial name
- NCT06350877
- Testing
- Physical Activity Intervention
- Where
- Canada
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
Breast Cancer
Mutation of BRCA1/2 and Other Potential Genes in Triple-negative Breast Cancer
The study is to determine the prevalence of potential chemo-response related genes mutation in TNBC patients between pCR and SD/PD group, which achieved after NAC; and to evaluate potential relationship between these gene…
- Trial name
- NCT02670668
- Testing
- Mutation analysis
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Fudan University
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
β-thalassemia Major
β-globin Restored Autologous HSC in β-thalassemia Major Patients
This is a single center, single arm, open-label study to determine the safety and efficacy of β-globin restored autologous hematopoietic stem cells in β- thalassemia major patients with CVS-654 mutation.
- Trial name
- NCT04205435
- Testing
- β-globin restored autologous HSC
- Where
- China
- Volunteers
- 2 people
- Sponsor
- Bioray Laboratories
Non-small Cell Lung Cancer
Special Drug Use-results Surveillance of Tabrecta Tablets
This study was an uncontrolled, primary data collection-based observational study to be conducted as a central registration system, multicenter special drug-use results surveillance.
- Trial name
- NCT04575025
- Testing
- Tabrecta tablets
- Where
- 78 sites in Japan
- Volunteers
- 109 people
- Sponsor
- Novartis Pharmaceuticals
Infantile Spasms, West Syndrome
Molecular Genetics in Infantile Spasms
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life.
- Trial name
- NCT02885389
- Volunteers
- 41 people
- Sponsor
- Hospices Civils de Lyon