Clinical trials: Mutation
Hemophilia A
Personalized Prediction of Tolerance and Immunogenicity in Hemophilia
This study is designed to accurately identify the pharmacogenetic determinants of risk of Factor VIII (FVIII) inhibitor development by focusing on only a select group of Hemophilia A (HA) patients who have: (i) received a…
- Trial name
- PPTIH (NCT01626105)
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Victor J Marder, M.D.
Cystic Fibrosis
Miglustat / OGT 918 in the Treatment of Cystic Fibrosis
Cystic fibrosis is a genetic disease caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). The purpose of the study is to investigate the effects of miglustat on CFTR function in cystic fibrosis…
- Trial name
- NCT00537602
- Testing
- miglustat
- Where
- Spain
- Volunteers
- 6 people
- Sponsor
- Actelion
Helicobacter Pylori Infection, Helicobacter Pylori Associated Gastrointestinal Disease
Prevalence and Trends of Antimicrobial Resistance of Helicobacter Pylori in Korea
To assess antimicrobial resistance rates and minimal inhibitory concentrations in H. pylori isolated from patients with upper gastrointestinal disease with long-term period.
- Conditions
- Helicobacter Pylori Infection, Helicobacter Pylori Associated Gastrointestinal Disease, Helicobacter Pylori Infection, Susceptibility to, Helicobacter Pylori 23S rRNA Clarithromycin Resistance Mutation
- Trial name
- NCT05247112
- Where
- South Korea
- Volunteers
- 2,000 people
- Sponsor
- Seoul National University Bundang Hospital
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
Chronic Myeloid Leukemia
Autologous Cytokine Induced Killer Cells (CIK) for Chronic Myeloid Leukemia (CML) Patients on Standard Drug Therapy
This is an extension of our ongoing clinical trial using ex vivo expanded autologous Cytokine-induced killer (CIK) cells as an adoptive cellular immunotherapy for haematological malignancies.
- Trial name
- NCT00815321
- Testing
- Autologous CIK cell infusion
- Where
- Singapore
- Volunteers
- 11 people
- Sponsor
- Singapore General Hospital
Solid Tumors With Documented BRCA, BARD, or PALB or Other Acceptable DNA Mutations or Anomalies That Are Scientifically Sound, Triple Negative Breast Cancer (TNBC)
Expanded Access to Veliparib
This is an expanded access program (EAP) for eligible participants. This program is designed to provide access to veliparib prior to approval by the local regulatory agency. Availability will depend on territory eligibility.
- Conditions
- Solid Tumors With Documented BRCA, BARD, or PALB or Other Acceptable DNA Mutations or Anomalies That Are Scientifically Sound, Triple Negative Breast Cancer (TNBC), High Grade Serous Ovarian Cancer, Patients Requiring Veliparib Suspension Formulation
- Trial name
- NCT03123211
- Testing
- Veliparib
- Sponsor
- AbbVie
Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
Backtracking Leukemia-Typical Somatic Mutations in Cord Blood
A comprehensive mechanistic and epidemiological study to obtain banked cord blood samples from consecutive childhood leukemia patients enrolled in the COG Project:EveryChild (APEC14B1) study.
- Trial name
- NCT05014165
- Testing
- Cord blood Sample Collection, Case identification and recruitment, Questionnaire Administration
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Children's Oncology Group
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)
HIV, Pregnancy
Maternal TDF and FTC to Reduce NNRTI Resistance Mutations After Intrapartum NVP
The purpose of this study is to determine whether the addition of tenofovir (TDF) and emtricitabine (FTC)to a standard PMTCT regimen containing single-dose nevirapine (NVP) can reduce the development of post-ingestion HIV…
- Trial name
- TD-2 (NCT00204308)
- Testing
- Combination tenofovir-emtricitabine
- Where
- 2 sites in Zambia
- Volunteers
- 400 people
- Sponsor
- University of North Carolina, Chapel Hill
Glioma, Molecular Sequence Variation
Survival Significance of Molecular Pathology and Genetic Variation in Brain Gliomas
This study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic data.
- Conditions
- Glioma, Molecular Sequence Variation, Genetic Change
- Trial name
- NCT04216537
- Testing
- Glioma groups based on molecular pathology or genetic variation
- Where
- China
- Volunteers
- 3,000 people
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
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
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
Cystic Fibrosis
ICM to Evaluate the Activation of p.Phe508del-CFTR by Lumacaftor in Combination With Ivacaftor
The academic investigator - initiated trial will evaluate in a postapproval setting whether, and if yes, to what extent and variability, the treatment with lumacaftor in combination with ivacaftor reverses the p.Phe508del CFTR …
- Trial name
- OrkambiFacts (NCT02807415)
- Testing
- Lumacaftor plus Ivacaftor
- Where
- 3 sites in Germany
- Volunteers
- 104 people
- Sponsor
- Hannover Medical School
Bladder Cancer
Cost-Effectiveness in Bladder Cancer
This randomized clinical multicentre trial aims to evaluate the efficacy of microsatellite analysis on voided urine to detect tumour recurrences in the follow-up of patients with superficial urothelialcell carcinoma (UCC).
- Trial name
- NCT00126958
- Testing
- urinary analysis
- Volunteers
- 500 people
- Sponsor
- Erasmus Medical Center
Autism Spectrum Disorders
Susceptibility Genes in Autism Spectrum Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- NCT02628808
- Where
- 5 sites in France
- Volunteers
- 1,616 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Intellectual Disability
Various Type of Genetic Events in Patients With Intellectual Disability
Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify…
- Trial name
- CNV-Seq (NCT02881333)
- Testing
- Blood samples
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Methylmalonic Acidemia
Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
The SUNRISE trial is a first-in-human (FIH), open-label, Phase 1/2 clinical trial designed to assess the safety, tolerability and preliminary efficacy of a single intravenous infusion of hLB-001 in pediatric patients with MMA…
- Trial name
- SUNRISE (NCT04581785)
- Testing
- hLB-001
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- LogicBio Therapeutics, Inc
Ovarian Cancer
Olaparib +/- Cediranib or Chemotherapy in Patients With Platinum-resistant Ovarian Cancer
The trial will compare the drugs olaparib and cediranib with standard chemotherapy in platinum resistant ovarian cancer. Patients will be randomised to one of three treatment groups: olaparib only, olaparib and cediranib and the…
- Trial name
- OCTOVA (NCT03117933)
- Testing
- Olaparib, Cediranib, Paclitaxel
- Where
- 14 sites in United Kingdom
- Volunteers
- 139 people
- Sponsor
- University of Oxford
Leber's Hereditary Optic Neuropathy (LHON)
Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy
The objective of this clinical study is to select the optimal dose and evaluate the safety and efficacy of NR082 in treatment of LHON caused by mitochondrial ND4 gene mutation.
- Trial name
- GOLD (NCT04912843)
- Testing
- NR082 injection
- Where
- China
- Volunteers
- 102 people
- Sponsor
- Wuhan Neurophth Biotechnology Limited Company
Detection and Genotyping of Factor V and Factor II Point Mutations
Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA
As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites.
- Trial name
- NCT00959504
- Volunteers
- 275 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.