Clinical trials: Genetic Mutation
Anaplastic Thyroid Cancer, Thyroid Cancer
XL092 and Cemiplimab in BRAF WT Thyroid Cancer
This multicenter study examines the safety and feasibility of the combination of neoadjuvant XL092 and cemiplimab prior to surgical resection in participants with wild-type (WT) anaplastic thyroid cancer (ATC) that has a BRAF…
- Conditions
- Anaplastic Thyroid Cancer, Thyroid Cancer, BRAF Mutation-Related Tumors
- Trial name
- NEO-COMBATXL (NCT06902376)
- Testing
- Cemiplimab, XL092
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Lung Cancer Metastatic
Efficacy and Safety of Anlotinib Plus Platinum Plus Pemetrexed in T790M-negative NSCLC
This study is conducted to explore the safety and efficacy of anlotinib, a tyrosine kinase inhibitors of vascular endothelial growth factor receptor 2（VEGFR）、FGFR（fibroblast growth factor receptor）, platelet-derived growth factor…
- Trial name
- NCT03706287
- Testing
- anlotinib 8mg + AP/PC, anlotinib 10mg + AP/PC, anlotinib 12mg + AP/PC
- Where
- 6 sites in China
- Volunteers
- 62 people
- Sponsor
- Sichuan Cancer Hospital and Research Institute
Non-small Cell Lung Cancer
Phase II Study of Erlotinib With Concurrent Radiotherapy in Unresectable NSCLC With Activating Mutation of EGFR in Exon 19 or 21
Erlotinib with concurrent radiotherapy has superior efficacy and comparable safety profile in unresectable stage III non-small cell lung cancer (NSCLC) patients with activating mutation of epidermal growth factor receptor (EGFR)…
- Trial name
- RECEL (NCT01714908)
- Testing
- Erlotinib w Concurrent Radiotherapy, etoposide/cis-platin (EP) w Concurrent Radiotherapy
- Where
- 19 sites in China
- Volunteers
- 100 people
- Sponsor
- Jinming Yu
Non Small Cell Lung Cancer
A Phase Ib/II Clinical Trial to Evaluate the Safety and Efficacy of HLX208+HLX10 in NSCLC With BRAF V600E Mutation
An open-label, multicenter phase Ib/II clinical study to evaluate safety, tolerability, pharmacokinetics, and efficacy of HLX208 (BRAF V600E Inhibitor) combined with HLX10 （anti-PD-1 monoclonal antibody）in advanced NSCLC patients…
- Trial name
- NCT05641493
- Testing
- HLX208+HLX10
- Where
- China
- Volunteers
- 49 people
- Sponsor
- Shanghai Henlius Biotech
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
Lipid Disorder
Genetic Origin of Lipid Disorders
Several lipid disorders are without known genetic origin. The scope of this project is to sequence genes superior involved in lipid and carbohydrate metabolism in patients with severe lipid disorders.
- Trial name
- NCT00277121
- Where
- Norway
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Oslo
Familial Adenomatous Polyposis
Evaluate REC-4881 in Participants With Familial Adenomatous Polyposis (FAP)
This is a multicenter, two-part trial in participants with FAP.
- Trial name
- TUPELO (NCT05552755)
- Testing
- REC-4881
- Where
- 17 sites in United States
- Volunteers
- 67 people
- Sponsor
- Recursion Pharmaceuticals Inc.
Amyotrophic Lateral Sclerosis
Frequency of SOD1 and C9orf72 Gene Mutations in French ALS
The purpose of the study is to determine the frequency of mutations in the C9orf72 and SOD1 genes in the incident population of ALS patients followed in the FILSLAN centres
- Trial name
- GENIALS (NCT04819555)
- Testing
- Blood
- Where
- 20 sites in France
- Volunteers
- 1,000 people
- Sponsor
- University Hospital, Tours
Duchenne Muscular Dystrophy
Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy
In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein.
- Trial name
- NCT00264888
- Testing
- PTC124
- Where
- 3 sites in United States
- Volunteers
- 38 people
- Sponsor
- PTC Therapeutics
Alagille Syndrome
Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach.
- Trial name
- NCT00001642
- Where
- United States
- Volunteers
- 225 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Advanced Solid Tumor
Phase I Clinical Study of YL-15293 in Patients With Advanced Solid Tumor With KRAS Mutation
This is a phase 1 / 2 open label multicenter study to evaluate the maximum tolerance, safety, tolerance and PK of oral YL-15293 in patients with advanced solid tumors with KRAS mutation, so as to confirm the recommended phase 2…
- Trial name
- NCT05173805
- Testing
- YL-15293
- Where
- China
- Volunteers
- 150 people
- Sponsor
- Shanghai YingLi Pharmaceutical Co. Ltd.
Osteopetrosis
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
The aim of the study is to describe patients with a high bone mass phenotype due to a mutation in the low density lipoprotein l receptor 5 gene (LRP5) and compare them with age and sex matched controls.
- Trial name
- NCT01199094
- Where
- Denmark
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Odense University Hospital
Cancer
AssesSment of Early-deteCtion basEd oN liquiD Biopsy in GASTRIC Cancer, ASCEND-Gastric
ASCEND-Gastric is a prospective, multi-omics, observational study aimed at detecting gastric cancer by combined assays for serum protein markers, deep sequencing of cell-free DNA (cfDNA), circulating tumor DNA (ctDNA) mutation…
- Trial name
- ASCEND-Gastric (NCT05224596)
- Testing
- Blood draw and blood-based biomarkers analyses
- Where
- China
- Volunteers
- 498 people
- Sponsor
- Shanghai Zhongshan Hospital
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
ER-positive and HER2-negative Metastatic or Locally Advanced Breast Cancer, a Germline or Somatic BRCA Mutation, or a Deleterious Alteration of Other Genes Involved in Homologous Recombination Repair (HRR) or in MSI Status
Durvalumab, With Olaparib and Fulvestrant in Advanced ER+, HER2- Breast Cancer Patients.
This study evaluates the efficacy of the combination of olaparib, durvalumab, and fulvestrant for the treatment of patients with ER-positive, HER2-negative, locally advanced or metastatic breast cancer with BRCA gene alterations…
- Trial name
- DOLAF (NCT04053322)
- Testing
- Durvalumab, Olaparib, Fulvestrant
- Where
- 2 sites in France
- Volunteers
- 172 people
- Sponsor
- UNICANCER
Advanced/Metastatic Non-Small Cell Lung Cancer (NSCLC)
PH009-1 in Patients With EGFR Mutation Locally Advanced or Metastatic Non-small Cell Lung Cancer (NSCLC)
The study will contain three stages: Phase I includes dose escalation phase (i.e., phase Ia) and dose expansion phase (i.e., phase Ib).
- Trial name
- NCT06590194
- Testing
- PH009-1 tablet
- Where
- China
- Volunteers
- 96 people
- Sponsor
- Suzhou Puhe Pharmaceutical Technology Co., LTD
EGFR T790M Mutation Positive NSCLC
AZD9291 US Expanded Access Program
To provide access to AZD9291 for adult patients with advanced/metastatic, epidermal growth factor receptor T790M mutation-positive non-small cell lung cancer.
- Trial name
- NCT02451852
- Testing
- AZD9291
- Where
- 32 sites in United States
- Sponsor
- AstraZeneca
Melanoma
Neoadjuvant Dabrafenib + Trametinib for AJCC Stage IIIB-C BRAF V600 Mutation Positive Melanoma
This is an open label, single centre, phase II study of neoadjuvant drug treatment with dabrafenib + trametinib in patients with resectable American Joint Committee on Cancer (AJCC) Stage IIIB-C BRAF V600 mutation positive…
- Trial name
- Neo Combi (NCT01972347)
- Testing
- Dabrafenib, Trametinib
- Where
- Australia
- Volunteers
- 35 people
- Sponsor
- Melanoma Institute Australia
RAS Mutation, Non-small Cell Lung Cancer (NSCLC)
This is a Multicenter, Open-label, Phase I/II Study to Explore the Safety, Tolerability, Pharmacokinetics (PK), and Preliminary Efficacy of GFH276 in Patients With Advanced NSCLC Harboring a RAS Mutation.
This is an open-label, multicenter Phase Ib/II clinical study evaluating GFH276 in combination with tislelizumab plus pemetrexed/platinum based regimen as first-line therapy in participants with locally advanced or metastatic…
- Trial name
- GFH276X1203 (NCT07846358)
- Testing
- GFH276, with or without Tislelizumab, Pemetrexed
- Volunteers
- 84 people
- Sponsor
- Genfleet Therapeutics (Shanghai) Inc.
Lung Neoplasms
Blood Sample Monitoring of Patients With EGFR Mutated Lung Cancer
In non-small celled lung cancer (NSCLC) 10-15% of the patients harbor a mutation in the tumor's epidermal growth factor receptor (EGFR M+). This receptor is the target for treatment with erlotinib.
- Trial name
- NCT02284633
- Where
- Denmark
- Volunteers
- 250 people
- Sponsor
- Aarhus University Hospital
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