Clinical trials: Gene Mutation
Retinal Dystrophy
A Study of LX107 Gene Therapy in AIPL1-IRD Patients
Administering subretinal injection of LX107 injection (a gene therapy drug) to patients with retinal dystrophy caused by AIPL1 gene mutation to evaluate its efficacy and safety.
- Trial name
- NCT07063030
- Testing
- LX107 Injection
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
HIV Infections
The Role of Diet Education and Nutritional Counselling in the Ongoing Care of People Living With HIV in Thailand
To evaluate the effectiveness of nutrition education and dietary counselling to improve the nutritional status, well-being and quality of life of people living with HIV/AIDS (PLWHA) attending an HIV treatment facility in Bangkok…
- Trial name
- TACH001 (NCT00549367)
- Testing
- Nutrition Counselling
- Where
- Thailand
- Volunteers
- 153 people
- Sponsor
- Thai Red Cross AIDS Research Centre
Prostatic Neoplasms
Prevalence of HRR-related Genes Mutations and Prognosis in Metastatic Castration Resistant Prostate Cancer (mCRPC) Patients in Real World Setting
The purpose of this study is to investigate the prevalence of tissue homologous recombination repair (HRR)-related gene mutations (positive/negative/Variant of uncertain significance (VUS)), clinical outcome such as…
- Trial name
- ZENSHIN (NCT04425200)
- Where
- 26 sites in Japan
- Volunteers
- 205 people
- Sponsor
- AstraZeneca
Colorectal Cancer Metastatic
Irinotecan Liposomes Combined with Cetuximab + Vermofenib in First-line Failure of Advanced Colorectal Cancer
Efficacy and safety of irinotecan liposomes combined with cetuximab + vermofenib in first-line failure of advanced RAS wild /BRAF mutated colorectal cancer, Exploratory analysis of biomarkers (including but not limited to ctDNA…
- Trial name
- VICPROIRI (NCT06763029)
- Testing
- Irinotecan liposomes combined with cetuximab + vermofenib
- Where
- China
- Volunteers
- 36 people
- Sponsor
- Fudan University
Primary Open Angle Glaucoma
CRISPR/Cas9 Instantaneous Gene Editing Therapy to Intraocular Hypertensive POAG With MYOC Mutation
This study is intented to evaluate the safety, tolerability and preliminary efficacy of CRISPR/Cas9 Instantaneous Gene Editing Therapy (BD113 virus-like particle, also BD113vLVP) in patients with primary open-angle glaucoma…
- Trial name
- NCT06465537
- Testing
- BD113vVLP
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Shanghai BDgene Co., Ltd.
EGFR Mutation Positive Non Small Cell Lung Cancer
Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation Study
The investigators wish to document the distribution of EGFR somatic mutations, and assess the relationship between specific genotype, clinical demographic, therapy, and survival, in a large cohort of EGFR mutant NSCLC.
- Trial name
- GEM (NCT01838577)
- Where
- United Kingdom
- Volunteers
- 2,000 people
- Sponsor
- European Organisation for Research and Treatment of Cancer - EORTC
Solid Tumor
A PhaseI Study of HL-085 Plus Vemurafenib in Solid Tumor With BRAF V600 Mutation
This is a phase I, open-label, dose escalation study to evaluate tolerability, safety, pharmacokinetics and efficacy in patients with BRAF V600 mutant advanced solid tumor by HL-085 plus Vemurafenib treatment.
- Trial name
- NCT03781219
- Testing
- HL-085, Vemurafenib
- Where
- 4 sites in China
- Volunteers
- 45 people
- Sponsor
- Shanghai Kechow Pharma, Inc.
Turner Syndrome, Short Stature Homeobox Gene Mutation
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
This basket trial will enroll prepubertal children and adolescents with clinically diagnosed and genetically confirmed (if applicable) TS, SHOX-D, SGA, or ISS between ages of ≥2 and <18 years with open growth plates.
- Conditions
- Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
- Trial name
- NCT07221851
- Testing
- Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
- Where
- 52 sites in United States, France and 5 more
- Volunteers
- 186 people
- Sponsor
- Ascendis Pharma A/S
Coagulopathy in Patients Having Thoraco-Abdominal Aneurysm Repair
Fibrinogen as an Alternative to FFP in Aortic Surgery.
Thoracoabdominal aneurysm (TAAA) repair is a major elective vascular operation associated with a large blood loss and potentially life-threatening clotting abnormalities.
- Trial name
- NCT00994045
- Testing
- Fibrinogen concentrate, Fresh Frozen Plasma
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- University of Edinburgh
Helminthiasis, Nematode Infection
Impact of Alternative Treatment Strategies and Delivery Systems for Soil-transmitted Helminths in Kenya
The mainstay of control of soil-transmitted helminths (STH) is school-based deworming but recent modelling has highlights that in all but low very transmission settings, the treatment of school-aged children is unlikely to…
- Conditions
- Helminthiasis, Nematode Infection, Disease Transmission, Infectious
- Trial name
- TUMIKIA (NCT02397772)
- Testing
- albendazole
- Where
- Kenya
- Volunteers
- 21,761 people, healthy volunteers welcome
- Sponsor
- London School of Hygiene and Tropical Medicine
CCND1 Gene Amplification, CCND2 Gene Amplification
Lung-MAP: Palbociclib as Second-Line Therapy in Treating Cell Cycle Gene Alteration Positive Patients With Recurrent Stage IV Squamous Cell Lung Cancer
This phase II/III trial studies how well palbociclib works in treating cell cycle gene alteration positive patients with stage IV squamous cell lung cancer that has come back after previous treatment.
- Conditions
- CCND1 Gene Amplification, CCND2 Gene Amplification, CCND3 Gene Amplification, CDK4 Gene Amplification
- Trial name
- NCT02785939
- Testing
- Docetaxel, Laboratory Biomarker Analysis, Palbociclib
- Where
- 1,065 sites in United States
- Volunteers
- 53 people
- Sponsor
- SWOG Cancer Research Network
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD.
- Trial name
- NCT03648827
- Testing
- Ataluren
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- PTC Therapeutics
Atopic Dermatitis
Clinical Importance of Filaggrin Gene Mutation for Treatment Outcome in Atopic Dermatitis
Atopic dermatitis is a common disease which affects about one million people in Finland at some stage of their life. In atopic dermatitis we see a superficial inflammation of the skin and a defect in skin barrier function.
- Trial name
- NCT01689805
- Where
- Finland
- Volunteers
- 800 people
- Sponsor
- Helsinki University Central Hospital
Non Small Cell Lung Cancer
Atezolizumab Plus Bevacizumab in First Line NSCLC Patients
This is a multi-center phase II clinical trial of atezolizumab in combination with bevacizumab as first line treatment for locally advanced or metastasic high-intermediate tumour mutation burden selected NSCLC patients.
- Trial name
- TELMA (NCT03836066)
- Testing
- Atezolizumab-Bevacizumab
- Where
- 25 sites in Spain
- Volunteers
- 41 people
- Sponsor
- Fundación GECP
Cancer
A Study to Evaluate the Effect of Repeat Oral Dosing of GSK2118436 on Cardiac Repolarization in Subjects With V600 BRAF Mutation-Positive Tumors
This is a Phase I, multicenter, 2-part study with Part 1 designed as a safety lead-in and Part 2 designed to evaluate the effect of GSK2118436 on cardiac repolarization (corrected QT interval [QTc] duration) as compared with…
- Trial name
- NCT01738451
- Testing
- GSK2118436 75 mg
- Where
- 8 sites in United States, Australia and 1 more
- Volunteers
- 50 people
- Sponsor
- GlaxoSmithKline
Carcinoma, Non-Small-Cell Lung
A Study of Adagrasib Plus Pembrolizumab Plus Chemotherapy vs. Placebo Plus Pembrolizumab Plus Chemotherapy in Participants With Previously Untreated Non-squamous Non-small Cell Lung Cancer With KRAS G12C Mutation (KRYSTAL-4)
This is a trial to evaluate the efficacy, safety, and tolerability of adagrasib plus pembrolizumab plus platinum-doublet chemotherapy versus placebo plus pembrolizumab plus platinum-doublet chemotherapy in participants with…
- Trial name
- NCT06875310
- Testing
- Adagrasib, Pembrolizumab, Carboplatin
- Where
- 317 sites in United States, Argentina and 33 more
- Volunteers
- 630 people
- Sponsor
- Mirati Therapeutics Inc.
EGFR Gene Mutation, Drug-Related Side Effects and Adverse Reactions
Applying Mobile Healthcare Education to Improve Cutaneous Self-care Capability
The goal of this clinical interventional study is to compare the efficacy of mobile healthcare education in two ways (game-based or text-based) to improve cutaneous self-care capability in cancer patients receiving EGFR-based…
- Conditions
- EGFR Gene Mutation, Drug-Related Side Effects and Adverse Reactions, Cancer, Treatment-Related, Cancer
- Trial name
- NCT06291688
- Testing
- Mobile healthcare education game, Mobile healthcare education application
- Where
- Taiwan
- Volunteers
- 110 people
- Sponsor
- National Taiwan University Hospital
Oculocutaneous Albinism, Mutation
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified.
- Trial name
- GENALB (NCT04068961)
- Testing
- Genetic analyzes
- Volunteers
- 64 people
- Sponsor
- University Hospital, Bordeaux
RAS Mutation, Advanced Solid Tumor
A First-in-Human Study Investigating BG-85738 Alone or in Combination With Other Antitumor Agents in Patients With Advanced or Metastatic Solid Tumors With Rat Sarcoma Virus (RAS) Mutations
The purpose of this study is to test if the BG-85738 is safe and if it works in patients with advanced solid tumors with RAS mutations when it is given on its own and in combination.
- Conditions
- RAS Mutation, Advanced Solid Tumor, Metastatic Solid Tumor
- Trial name
- NCT07746141
- Testing
- BG-85738, Tislelizumab, Cetuximab
- Where
- 3 sites in Australia, New Zealand
- Volunteers
- 100 people
- Sponsor
- BeOne Medicines
Colorectal Cancer
Gene Expression in Patients With Advanced or Metastatic Colorectal Cancer Receiving Bevacizumab
RATIONALE: Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00897754
- Testing
- gene expression analysis, protein expression analysis, reverse transcriptase-polymerase chain reaction
- Volunteers
- 200 people
- Sponsor
- ECOG-ACRIN Cancer Research Group
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